TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype.

ABSTRACT: Intellectual disability (ID) with autosomal recessive (AR) inheritance is believed to be common; however, very little is known about causative genes and genotype-phenotype correlations. The broad genetic heterogeneity of AR-ID, and its usually nonsyndromic nature make it difficult to pool multiple pedigrees with the same underlying genetic defect to achieve consistent nosology. Nearly all autosomal genes responsible for recessive cognitive disorders have been identified in large consanguineous families from the Middle East, and nonsense mutations in TRAPPC9 have been reported in a total of 5. Although several recurrent phenotypic abnormalities are described in some of these patients, the associated phenotype is usually referred to as nonsyndromic. By means of single-nucleotide polymorphism

SUBMITTER: Marangi G 

PROVIDER: S-EPMC3548258 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature