Human Gene Module / Chromosome X / NEXMIF

NEXMIFneurite extension and migration factor

SFARI Gene Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
12 / 36
Rare Variants / Common Variants
108 / 0
Aliases
NEXMIF, KIAA2022,  KIDLIA,  MRX98,  XPN
Associated Syndromes
-
Chromosome Band
Xq13.3
Associated Disorders
DD/NDD, ID, EP, EPS, ASD
Relevance to Autism

Maternally-inherited variants affecting the NEXMIF gene have been identified in male probands presenting with intellectual disability and autistic features (Cantagrel et al., 2004; Van Maldergem et al., 2013).

Molecular Function

Involved in neurite outgrowth by regulating cell-cell adhesion via the N-cadherin signaling pathway. May act by regulating expression of protein-coding genes, such as N-cadherins and integrin beta-1 (ITGB1).

External Links
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
Entrez GeneOMIMUniProtHumanBaseVariCarta
Mouse
Entrez GeneMouse Genome InformaticsAllen Brain Atlas
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to NEXMIF (36 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males Cantagrel V , et al. (2004) No -
2 Support Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders Lim ET , et al. (2013) Yes -
3 Recent Recommendation Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth Van Maldergem L , et al. (2013) No ASD
4 Recent Recommendation XLMR protein related to neurite extension (Xpn/KIAA2022) regulates cell-cell and cell-matrix adhesion and migration Magome T , et al. (2013) No -
5 Support The contribution of de novo coding mutations to autism spectrum disorder Iossifov I et al. (2014) Yes -
6 Support A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism Charzewska A , et al. (2014) Yes -
7 Support Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features Kuroda Y , et al. (2015) No Hypotonia, distinctive facial dysmorphisms
8 Support X-linked intellectual disability related genes disrupted by balanced X-autosome translocations Moyss-Oliveira M , et al. (2015) Yes -
9 Support KIAA2022 nonsense mutation in a symptomatic female Farach LS and Northrup H (2015) No Autistic behavior, microcephaly, short stature
10 Recent Recommendation De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy de Lange IM , et al. (2016) No ASD or autistic features
11 Support Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability Lelieveld SH et al. (2016) No -
12 Support De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females Webster R , et al. (2016) No -
13 Recent Recommendation The X-Linked Autism Protein KIAA2022/KIDLIA Regulates Neurite Outgrowth via N-Cadherin and ?-Catenin Signaling Gilbert J and Man HY (2016) No -
14 Support Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder C Yuen RK et al. (2017) Yes -
15 Support Genomic diagnosis for children with intellectual disability and/or developmental delay Bowling KM , et al. (2017) No -
16 Support High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies Hamdan FF , et al. (2017) No DD/ID
17 Support Clinical spectrum of KIAA2022 pathogenic variants in males: Case report of two boys with KIAA2022 pathogenic variants and review of the literature Lorenzo M , et al. (2018) No Epilepsy/seizures
18 Support Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother Lambert N , et al. (2018) No Autistic features
19 Support Breakpoint mapping at nucleotide resolution in X-autosome balanced translocations associated with clinical phenotypes Moyss-Oliveira M , et al. (2019) No Microcephaly, short stature
20 Support NEXMIF/KIDLIA Knock-out Mouse Demonstrates Autism-Like Behaviors, Memory Deficits, and Impairments in Synapse Formation and Function Gilbert J , et al. (2019) Yes -
21 Support Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures Tang S et al. (2020) No -
22 Support Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients Panda PK et al. (2020) No ASD or autistic features, DD, ID, epilepsy/seizure
23 Support Novel NEXMIF gene pathogenic variant in a female patient with refractory epilepsy and intellectual disability Wu D et al. (2020) No DD, ID, epilepsy/seizures
24 Support Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders Wang T et al. (2020) Yes -
25 Recent Recommendation NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns Stamberger H et al. (2020) No ASD/autistic features
26 Support - Pode-Shakked B et al. (2021) No -
27 Support - Chen S et al. (2021) Yes DD, ID
28 Support - Langley E et al. (2022) No ASD or autistic features, ADHD, ID
29 Support - Brea-Fernández AJ et al. (2022) No Epilepsy/seizures
30 Support - Levchenko O et al. (2022) No -
31 Support - Stekelenburg C et al. (2022) No Autistic behavior
32 Support - Zhou X et al. (2022) Yes -
33 Support - Sheth F et al. (2023) Yes DD, ID
34 Support - Rebecca A Mount et al. (2023) Yes -
35 Support - Margaret O'Connor et al. (2024) Yes -
36 Support - Magdalena Badura-Stronka et al. (2024) No DD, ID
Rare Variants   (108)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - copy_number_loss De novo - - 27358180 de Lange IM , et al. (2016)
- - copy_number_loss De novo - - 33144681 Stamberger H et al. (2020)
- - translocation De novo - - 26290131 Moyss-Oliveira M , et al. (2015)
- - translocation De novo - - 30700833 Moyss-Oliveira M , et al. (2019)
c.1069C>T p.Gln357Ter stop_gained Unknown - - 33004838 Wang T et al. (2020)
c.4405C>T p.Arg1469Ter stop_gained Unknown - - 33004838 Wang T et al. (2020)
c.65G>A p.Gly22Glu missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.937C>T p.Arg313Ter stop_gained De novo - - 27568816 Webster R , et al. (2016)
c.431G>A p.Arg144Gln missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.2707G>T p.Glu903Ter stop_gained De novo - - 29693785 Lorenzo M , et al. (2018)
c.438C>A p.Cys146Ter stop_gained De novo - - 27358180 de Lange IM , et al. (2016)
c.652C>T p.Arg218Ter stop_gained De novo - - 27358180 de Lange IM , et al. (2016)
c.952C>T p.Gln318Ter stop_gained De novo - - 27358180 de Lange IM , et al. (2016)
c.964C>T p.Arg322Ter stop_gained De novo - - 27358180 de Lange IM , et al. (2016)
c.336G>A p.Trp112Ter stop_gained De novo - - 33144681 Stamberger H et al. (2020)
c.882C>A p.Tyr294Ter stop_gained De novo - - 33144681 Stamberger H et al. (2020)
c.898G>T p.Glu300Ter stop_gained De novo - - 33144681 Stamberger H et al. (2020)
c.3055G>A p.Asp1019Asn missense_variant Unknown - - 33004838 Wang T et al. (2020)
c.3901A>T p.Asn1301Tyr missense_variant De novo - - 33004838 Wang T et al. (2020)
c.1441C>T p.Arg481Ter stop_gained De novo - - 27358180 de Lange IM , et al. (2016)
c.1882C>T p.Arg628Ter stop_gained De novo - - 27358180 de Lange IM , et al. (2016)
c.2707G>T p.Glu903Ter stop_gained De novo - - 27479843 Lelieveld SH et al. (2016)
c.1882C>T p.Arg628Ter stop_gained Unknown - - 33144681 Stamberger H et al. (2020)
c.2645C>G p.Ser882Ter stop_gained Unknown - - 33144681 Stamberger H et al. (2020)
c.3652C>T p.Gln1218Ter stop_gained De novo - - 33144681 Stamberger H et al. (2020)
c.4411C>T p.Gln1471Ter stop_gained Unknown - Unknown 23352160 Lim ET , et al. (2013)
c.964C>T p.Arg322Ter stop_gained De novo - Simplex 25900396 Kuroda Y , et al. (2015)
c.937C>T p.Arg313Ter stop_gained De novo - Simplex 35146903 Langley E et al. (2022)
c.2113C>T p.Gln705Ter stop_gained De novo - Simplex 25900396 Kuroda Y , et al. (2015)
- - inversion Familial Maternal Multi-generational 15466006 Cantagrel V , et al. (2004)
- - copy_number_gain Familial Maternal Simplex 23615299 Van Maldergem L , et al. (2013)
c.1063del p.Leu355Ter frameshift_variant De novo - Simplex 32924309 Wu D et al. (2020)
c.652C>T p.Arg218Ter stop_gained Unknown - Multiplex 29693785 Lorenzo M , et al. (2018)
c.2667G>A p.Trp889Ter stop_gained De novo - Simplex 35887114 Levchenko O et al. (2022)
c.2042del p.Gly681fs frameshift_variant De novo - - 27358180 de Lange IM , et al. (2016)
c.336G>A p.Trp112Ter stop_gained De novo - Simplex 33144681 Stamberger H et al. (2020)
c.652C>T p.Arg218Ter stop_gained De novo - Simplex 33144681 Stamberger H et al. (2020)
c.694C>T p.Gln232Ter stop_gained Unknown - Simplex 33144681 Stamberger H et al. (2020)
c.705T>A p.Tyr235Ter stop_gained De novo - Simplex 33144681 Stamberger H et al. (2020)
c.784G>T p.Glu262Ter stop_gained De novo - Simplex 33144681 Stamberger H et al. (2020)
c.1123dup p.Glu375GlyfsTer4 frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.3569G>A p.Ser1190Asn missense_variant De novo - Simplex 35982159 Zhou X et al. (2022)
c.4185del p.Lys1396fs frameshift_variant De novo - - 27358180 de Lange IM , et al. (2016)
c.1441C>T p.Arg481Ter stop_gained De novo - Simplex 33144681 Stamberger H et al. (2020)
c.1568G>A p.Trp523Ter stop_gained De novo - Simplex 33144681 Stamberger H et al. (2020)
c.1882C>T p.Arg628Ter stop_gained De novo - Simplex 33144681 Stamberger H et al. (2020)
c.1954C>T p.Gln652Ter stop_gained De novo - Simplex 33144681 Stamberger H et al. (2020)
c.1975C>T p.Gln659Ter stop_gained De novo - Simplex 33144681 Stamberger H et al. (2020)
c.2749G>T p.Gly917Ter stop_gained De novo - Simplex 33144681 Stamberger H et al. (2020)
c.2758C>T p.Gln920Ter stop_gained De novo - Simplex 33144681 Stamberger H et al. (2020)
c.2799C>A p.Tyr933Ter stop_gained De novo - Simplex 33144681 Stamberger H et al. (2020)
c.2892C>G p.Tyr964Ter stop_gained De novo - Simplex 33144681 Stamberger H et al. (2020)
c.2892C>G p.Tyr964Ter stop_gained Unknown - Simplex 33144681 Stamberger H et al. (2020)
c.2984C>A p.Ser995Ter stop_gained De novo - Simplex 33144681 Stamberger H et al. (2020)
c.3221dup p.Asp1075GlyfsTer4 frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.3142G>T p.Glu1048Ter stop_gained De novo - Simplex 33144681 Stamberger H et al. (2020)
c.3376G>T p.Glu1126Ter stop_gained De novo - Simplex 33144681 Stamberger H et al. (2020)
c.964C>T p.Arg322Ter stop_gained Unknown - Multiplex 33144681 Stamberger H et al. (2020)
c.937C>T p.Arg313Ter stop_gained De novo - Simplex 34580403 Pode-Shakked B et al. (2021)
c.652C>T p.Arg218Ter stop_gained De novo - Simplex 35970867 Stekelenburg C et al. (2022)
c.1441C>T p.Arg481Ter stop_gained De novo - - 35322241 Brea-Fernández AJ et al. (2022)
c.4162G>A p.Ala1388Thr missense_variant Familial Maternal - 34800434 Chen S et al. (2021)
c.3734dup p.Ser1246LysfsTer15 frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.3842del p.Gly1281GlufsTer16 frameshift_variant Unknown - - 33004838 Wang T et al. (2020)
c.964C>T p.Arg322Ter stop_gained De novo - Simplex 26576034 Farach LS and Northrup H (2015)
c.422delA p.Gln141ArgfsTer7 frameshift_variant De novo - - 27568816 Webster R , et al. (2016)
c.625dupC p.Leu209ProfsTer3 frameshift_variant De novo - - 27568816 Webster R , et al. (2016)
c.3402C>A p.His1134Gln missense_variant De novo - Simplex 25363768 Iossifov I et al. (2014)
c.1262_1271del p.Leu421GlnfsTer76 frameshift_variant Unknown - - 32469098 Tang S et al. (2020)
c.2053del p.Cys685ValfsTer7 frameshift_variant De novo - - 33144681 Stamberger H et al. (2020)
- - copy_number_gain Familial Maternal Multi-generational 25394356 Charzewska A , et al. (2014)
c.2725del p.Ala909ProfsTer13 frameshift_variant De novo - - 27358180 de Lange IM , et al. (2016)
c.2133del p.Pro712GlnfsTer17 frameshift_variant De novo - - 33144681 Stamberger H et al. (2020)
c.3458dup p.Asn1153LysfsTer8 frameshift_variant De novo - - 33144681 Stamberger H et al. (2020)
c.3597dup p.Ser1200IlefsTer5 frameshift_variant De novo - - 33144681 Stamberger H et al. (2020)
c.1582delA p.Arg528GlufsTer4 frameshift_variant De novo - - 27358180 de Lange IM , et al. (2016)
c.3964A>G p.Asn1322Asp missense_variant De novo - - 35322241 Brea-Fernández AJ et al. (2022)
c.3470C>A p.Ser1157Ter stop_gained Familial Maternal Simplex 29717186 Lambert N , et al. (2018)
c.3591del p.Lys1199AsnfsTer73 frameshift_variant De novo - - 33144681 Stamberger H et al. (2020)
c.3458dupA p.Asn1153LysfsTer8 frameshift_variant De novo - - 33144681 Stamberger H et al. (2020)
c.2999_3000delCT p.Ser1000Cysfs frameshift_variant De novo - - 28554332 Bowling KM , et al. (2017)
c.3596_3597insA p.Lys1199Asnfs frameshift_variant De novo - - 27358180 de Lange IM , et al. (2016)
c.883_884del p.Met295ValfsTer2 frameshift_variant - - Unknown 33144681 Stamberger H et al. (2020)
c.788del p.Thr263IlefsTer41 frameshift_variant Unknown - Unknown 35146903 Langley E et al. (2022)
c.1505A>G p.Glu502Gly missense_variant Unknown - Extended multiplex 37543562 Sheth F et al. (2023)
c.1441C>T p.Arg481Ter stop_gained Familial Maternal Multiplex 33144681 Stamberger H et al. (2020)
c.2158dup p.Ile720AsnfsTer4 frameshift_variant De novo - Simplex 33144681 Stamberger H et al. (2020)
c.846_849del p.Val283ThrfsTer20 frameshift_variant De novo - Simplex 35146903 Langley E et al. (2022)
c.2201_2202delAA p.Lys734SerfsTer24 frameshift_variant De novo - - 27358180 de Lange IM , et al. (2016)
c.3053_3066del14 p.Gly1018AspfsTer2 frameshift_variant De novo - - 27358180 de Lange IM , et al. (2016)
c.1294dup p.Ser432PhefsTer10 frameshift_variant De novo - Simplex 33144681 Stamberger H et al. (2020)
c.3458dup p.Asn1153LysfsTer8 frameshift_variant De novo - Simplex 33144681 Stamberger H et al. (2020)
c.3797dup p.Met1268TyrfsTer28 frameshift_variant De novo - Simplex 33144681 Stamberger H et al. (2020)
c.1556A>T p.Asp519Val missense_variant Familial Maternal Multiplex 33144681 Stamberger H et al. (2020)
c.2774_2775insGAAA p.Asn926LysfsTer3 frameshift_variant Unknown - Simplex 28263302 C Yuen RK et al. (2017)
c.1262_1271del p.Leu421GlnfsTer76 frameshift_variant De novo - Simplex 33144681 Stamberger H et al. (2020)
c.2937_2938insGAAAG p.Gln980GlufsTer32 frameshift_variant De novo - Simplex 29100083 Hamdan FF , et al. (2017)
c.2084_2085insCA p.Gly696LysfsTer6 frameshift_variant Familial Maternal - 33144681 Stamberger H et al. (2020)
c.3156_3158del p.Leu1053del inframe_deletion Familial Maternal Multiplex 33144681 Stamberger H et al. (2020)
c.280dup p.Ala94GlyfsTer24 frameshift_variant Familial Maternal Multiplex 33144681 Stamberger H et al. (2020)
c.3565_3566insCACTCTTCTCAGA p.Gln1189ProfsTer20 frameshift_variant De novo - Simplex 35982159 Zhou X et al. (2022)
c.3458dupA p.Asn1153LysfsTer8 frameshift_variant Unknown Not maternal Simplex 33144681 Stamberger H et al. (2020)
c.883_884del p.Met295ValfsTer2 frameshift_variant Unknown Not maternal Simplex 33144681 Stamberger H et al. (2020)
c.846_849del p.Val283ThrfsTer20 frameshift_variant Unknown - Simplex 38328757 Magdalena Badura-Stronka et al. (2024)
c.1851del p.Phe617LeufsTer55 frameshift_variant Familial Maternal Extended multiplex 32600841 Panda PK et al. (2020)
c.2562_2563dup p.Leu855ProfsTer55 frameshift_variant Unknown Not paternal Simplex 33144681 Stamberger H et al. (2020)
c.186del p.Gly63ValfsTer21 frameshift_variant Familial Maternal Multi-generational 23615299 Van Maldergem L , et al. (2013)
c.3597dupA p.Ser1200TyrfsTer5 frameshift_variant Familial Maternal Multi-generational 23615299 Van Maldergem L , et al. (2013)
Common Variants  

No common variants reported.

SFARI Gene score
1

High Confidence

Score Delta: Score remained at 1

criteria met
See SFARI Gene'scoring criteria
1

High Confidence

See all Category 1 Genes

We considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.

10/1/2020
1
icon
1

Score remained at 1

Description

Maternally-inherited variants affecting the NEXMIF gene (formerly known as the KIAA2022 gene) have been identified in male probands presenting with intellectual disability and autism/autistic features (Cantagrel et al., 2004; Van Maldergem et al., 2013; Charzewska et al., 2015). De novo gene-disruptive variants in NEXMIF have also been identified in both male and female patients presenting with intellectual disability and ASD/autistic features (Kuroda et al., 2015; Moyses-Oliveira et al., 2015; Farach and Northrup et al., 2016). de Lange et al., 2016 identified 14 females with heterozygous de novo predicted loss-of-function variants that presented with intellectual disability and/or epilepsy; 6 of these cases also presented with autistic behavior, with one case being subsequently diagnosed with ASD (patient 1, as reported in the supplementary material). NEXMIF was shown to regulate neurite outgrowth in layer II/III mouse cortical neurons and cultured rat neurons via N-cadherin and -catenin signaling in Gilbert and Man, 2016. Male NEXMIF KO mice were found to demonstrate reduced sociability and communication, elevated repetitive grooming behavior, and deficits in learning and memory in Gilbert et al., 2019.

Reports Added
[Novel NEXMIF gene pathogenic variant in a female patient with refractory epilepsy and intellectual disability2020] [Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders2020] [NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns2020]
7/1/2020
1
icon
1

Score remained at 1

Description

Maternally-inherited variants affecting the NEXMIF gene (formerly known as the KIAA2022 gene) have been identified in male probands presenting with intellectual disability and autism/autistic features (Cantagrel et al., 2004; Van Maldergem et al., 2013; Charzewska et al., 2015). De novo gene-disruptive variants in NEXMIF have also been identified in both male and female patients presenting with intellectual disability and ASD/autistic features (Kuroda et al., 2015; Moyses-Oliveira et al., 2015; Farach and Northrup et al., 2016). de Lange et al., 2016 identified 14 females with heterozygous de novo predicted loss-of-function variants that presented with intellectual disability and/or epilepsy; 6 of these cases also presented with autistic behavior, with one case being subsequently diagnosed with ASD (patient 1, as reported in the supplementary material). NEXMIF was shown to regulate neurite outgrowth in layer II/III mouse cortical neurons and cultured rat neurons via N-cadherin and -catenin signaling in Gilbert and Man, 2016. Male NEXMIF KO mice were found to demonstrate reduced sociability and communication, elevated repetitive grooming behavior, and deficits in learning and memory in Gilbert et al., 2019.

Reports Added
[Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients2020]
4/1/2020
1
icon
1

Score remained at 1

Description

Maternally-inherited variants affecting the NEXMIF gene (formerly known as the KIAA2022 gene) have been identified in male probands presenting with intellectual disability and autism/autistic features (Cantagrel et al., 2004; Van Maldergem et al., 2013; Charzewska et al., 2015). De novo gene-disruptive variants in NEXMIF have also been identified in both male and female patients presenting with intellectual disability and ASD/autistic features (Kuroda et al., 2015; Moyses-Oliveira et al., 2015; Farach and Northrup et al., 2016). de Lange et al., 2016 identified 14 females with heterozygous de novo predicted loss-of-function variants that presented with intellectual disability and/or epilepsy; 6 of these cases also presented with autistic behavior, with one case being subsequently diagnosed with ASD (patient 1, as reported in the supplementary material). NEXMIF was shown to regulate neurite outgrowth in layer II/III mouse cortical neurons and cultured rat neurons via N-cadherin and -catenin signaling in Gilbert and Man, 2016. Male NEXMIF KO mice were found to demonstrate reduced sociability and communication, elevated repetitive grooming behavior, and deficits in learning and memory in Gilbert et al., 2019.

Reports Added
[Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures2020]
10/1/2019
3
icon
1

Decreased from 3 to 1

New Scoring Scheme
Description

Maternally-inherited variants affecting the NEXMIF gene (formerly known as the KIAA2022 gene) have been identified in male probands presenting with intellectual disability and autism/autistic features (Cantagrel et al., 2004; Van Maldergem et al., 2013; Charzewska et al., 2015). De novo gene-disruptive variants in NEXMIF have also been identified in both male and female patients presenting with intellectual disability and ASD/autistic features (Kuroda et al., 2015; Moyses-Oliveira et al., 2015; Farach and Northrup et al., 2016). de Lange et al., 2016 identified 14 females with heterozygous de novo predicted loss-of-function variants that presented with intellectual disability and/or epilepsy; 6 of these cases also presented with autistic behavior, with one case being subsequently diagnosed with ASD (patient 1, as reported in the supplementary material). NEXMIF was shown to regulate neurite outgrowth in layer II/III mouse cortical neurons and cultured rat neurons via N-cadherin and -catenin signaling in Gilbert and Man, 2016. Male NEXMIF KO mice were found to demonstrate reduced sociability and communication, elevated repetitive grooming behavior, and deficits in learning and memory in Gilbert et al., 2019.

Reports Added
[NEXMIF/KIDLIA Knock-out Mouse Demonstrates Autism-Like Behaviors, Memory Deficits, and Impairments in Synapse Formation and Function.2019] [New Scoring Scheme]
7/1/2018
icon
3

Increased from to 3

Description

Maternally-inherited variants affecting the NEXMIF gene (formerly known as the KIAA2022 gene) have been identified in male probands presenting with intellectual disability and autism/autistic features (Cantagrel et al., 2004; Van Maldergem et al., 2013; Charzewska et al., 2015). De novo gene-disruptive variants in NEXMIF have also been identified in both male and female patients presenting with intellectual disability and ASD/autistic features (Kuroda et al., 2015; Moyses-Oliveira et al., 2015; Farach and Northrup et al., 2016). de Lange et al., 2016 identified 14 females with heterozygous de novo predicted loss-of-function variants that presented with intellectual disability and/or epilepsy; 6 of these cases also presented with autistic behavior, with one case being subsequently diagnosed with ASD (patient 1, as reported in the supplementary material). NEXMIF was shown to regulate neurite outgrowth in layer II/III mouse cortical neurons and cultured rat neurons via N-cadherin and -catenin signaling in Gilbert and Man, 2016.

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