Articles Related to Intellectual disability
A Novel Hemizygous Mutation of HCFC1 Causes X-Linked Recessive Gene Inherited Developmental Delay in a Chinese Family
Developmental delay (DD) / intellectual disability (ID) is considered one of the most genetically heterogeneous human diseases.
Herein, we described a Chinese boy affected by DD/ID with 3-methylcrotonyl-CoA carboxylase deficiency (MCCD) and 3-hydroxy3-methylglutaric aciduria (3-HMG), which associated with a novel missense hemizygous mutation, c.4442C>T, within the acidic
domain of HCFC1 gene identified by whole exon sequencing (WES) and validated by Sanger sequencing.
Non-Syndromic X Linked Intellectual Disability in Two Brothers with A Novel NLGN4X Gene Splicing Mutation (NC_018934.2: g. 1202C>A)
X-linked Intellectual Disability (XLID) is an extremely heterogeneous disorder for which many of the causative genes are still unknown. So far, more than one hundred genes of the X chromosome have been found to be altered in males manifesting intellectual disability (ID). NLGN4X is an XLID gene, which has been found, involved in autism and Asperger syndrome involving causative coding mutations.
