Intellectual disability update Jan 2018

Gene: NLGN4X

Red List (low evidence)

From the literature (PMID: 14963808), a large extended family with several male members affected by intellectual disability and/or autism is described as having a two base pair deletion in this gene, resulting in a premature stop codon being produced. A founder effect mutation as all individuals are related and have the same mutation cannot be ruled out in this paper. Other papers (10922387, 19125102); describe patients with deletions including this gene among others, with intellectual disability ranging from mild to absent in 10922387 (no intellectual disability). In the other paper (19125102), an analysis was performed on children (all from a single population in Qinba mountains region of China) displaying Non Specific Mental Retardation (NSMR) and those with borderline IQ values for mental retardation, which displayed a possible link between NSMR and variants in the sixth exon of this gene. However, the details of the specific variants found in the sixth exon are not provided in the paper. The population is noted to be an isolated population with little in the way of infrastructure with a higher than average intellectual disability rate than is found in the general population, so a founder effect mutation cannot be ruled out here.

Additionally, PMID: 18194880 and 17391250 describe patients with deletions and variants in this gene with either no apparent phenotypic consequence on their IQs or a varied IQ range.

OMIM indicates that variants in this gene are linked to Autism Spectrum Disorder susceptibility, with three case study papers cited (PMID:12669065; 18231125; 10071191) and several non-case study papers (29428674; . Autism Spectrum Spectrum disorders without intellectual disability are not being included in the Intellectual Disability panel at this point in time.

Created: 7 Mar 2018, 11:48 a.m.

Publications

• 12669065
• 18231125
• 10071191
• 29428674