NFIX
Homo sapiens
Gene Name: nuclear factor I/X (CCAAT-binding transcription factor)
Aliases: MRSHSS, NF1A, SOTOS2
Chromosome No: 19
Chromosome Band: 19p13.13
Genetic Category: Syndromic-Rare single gene variant-
Associated Syndrome(s): Sotos syndrome 2
Aliases: MRSHSS, NF1A, SOTOS2
Chromosome No: 19
Chromosome Band: 19p13.13
Genetic Category: Syndromic-Rare single gene variant-
Associated Syndrome(s): Sotos syndrome 2
Summary Statistics:
ASD Reports: 20
Recent Reports: 2
Annotated variants: 72
Associated CNVs: 7
Evidence score: 2
ASD Reports: 20
Recent Reports: 2
Annotated variants: 72
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
De novo monoallelic variants affecting the NFIX gene are responsible for two distinct syndromes: Sotos syndrome 2, also known as Malan syndrome, and Marshall-Smith syndrome (Malan et al., 2010). It was reported in Klaassens et al., 2014 that autistic traits have been reported in five cases with Malan syndrome (25%), including one case with a diagnosis of ASD (patient 1 in that report).
Molecular Function
The protein encoded by this gene is a transcription factor that binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3 in viral and cellular promoters.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
Sotos syndrome 2
ID, autistic traits, speech delay, outgrowth
Support
High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.
Marshall-Smith syndrome
ID
Support
Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
Sotos syndrome 2
Support
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature.
Sotos syndrome 2
DD, overgrowth, ASD
Support
Variantrecurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense v...
DD
Support
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with develop...
Sotos syndrome 2
ID, macrocephaly
Support
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of two clinical units and 216 patients.
ID
Macrocephaly
Support
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
DD, ID
Support
A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
ID
Support
Deep phenotyping and whole-exome sequencing improved the diagnostic yield for nuclear pedigrees with neurodevelopmental disorders
DD, ID
ADHD
Support
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
ID, dysmorphic features
Support
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
ID
Marfanoid habitus
Recent Recommendation
Further delineation of Malan syndrome.
Sotos syndrome 2
Autistic features
