Novel TTC37 mutations in a patient with Trichohepatoenteric syndrome: a case report and literature review.

ABSTRACT:

Background

Trichohepatoenteric syndrome (THES) is a rare autosomal recessive genetic disease caused by pathogenic mutations in TTC37 or SKIV2L gene. The presentation is variable, including intractable diarrhea, woolly hair abnormality, immune dysfunction, intrauterine growth restriction (IUGR), facial dysmorphism, and sometimes liver and skin abnormalities. Although four Chinese children affected with THES syndrome 1 have been described in Singapore, Taiwan (China) and Malaysia, to our knowledge, this is the first report of a patient with THES in Mainland China, harboring classical platelets features, clinical course, and novel mutations in TTC37 gene.

Case description

The male infant had symmetrical IUGR, and was born at 37⁺¹ weeks with a bir

SUBMITTER: Gao J 

PROVIDER: S-EPMC9253954 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature