Autism

Gene: RAB39B

Green List (high evidence)

Comment on classification: This gene should be rated green, as there are sufficient cases (>3 unrelated cases) were identified with RAB39B variants and implicated in autism. In addition, there is ample of functional evidence available including studies from mouse knockout models.

PMID:20159109 reported two out of four brothers with RAB39B variant from family X (D-23) and one patient from MRX72 family were reported with autism spectrum disorder (ASD), while all patients were mentally retarded.

PMID:29152164 reported two males from the same family identified with RAB39B variant and diagnosed with macrocephaly, intellectual disability (ID) and ASD, while their female sibling with the same mutation presented with ID and a broad autism phenotype.

PMID:32873259 report a seven year old boy with a RAB39B variant (c.436_447del) and a concurrent heterozygous NF1 variant (c.6579+2T>C) was presented with multiple café-au-lait macules (CALMs) and freckling, severe macrocephaly, peculiar facial gestalt, severe ID with absent speech, epilepsy, autistic traits, self-harming, and aggressiveness.

PMID:34761259 reports a novel RAB39B nonstop variant (Xq28; c.640 T > C; p.(*214Glnext*21)) in a family where two brothers were diagnosed with ASD, severe (level 3) ID, hypotonia, language impairment and poor motor coordination.

Created: 10 Feb 2023, 4:28 p.m. | Last Modified: 10 Feb 2023, 4:35 p.m.

Panel Version: 0.28

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Intellectual developmental disorder, X-linked 72, OMIM:300271

Publications

• 20159109
• 29152164
• 32873259
• 34761259

I don't know

Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/RAB39B

Created: 1 Apr 2019, 11:26 a.m.