Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).

ABSTRACT:

Background & aims

Trichohepatoenteric syndrome (THES) is an autosomal-recessive disorder characterized by life-threatening diarrhea in infancy, immunodeficiency, liver disease, trichorrhexis nodosa, facial dysmorphism, hypopigmentation, and cardiac defects. We attempted to characterize the phenotype and elucidate the molecular basis of THES.

Methods

Twelve patients with classic THES from 11 families had detailed phenotyping. Autozygosity mapping was undertaken in 8 patients from consanguineous families using 250,000 single nucleotide polymorphism arrays and linked regions evaluated using microsatellite markers. Linkage was confirmed to one region from which candidate genes were analyzed. The effect of mutations on protein production and/or localization in hepatocytes and int

SUBMITTER: Hartley JL 

PROVIDER: S-EPMC3166659 | biostudies-literature | 2010 Jun

REPOSITORIES: biostudies-literature