A novel INDEL mutation in the PTCH1 gene in a Chinese family with Gorlin syndrome.

ABSTRACT: Gorlin syndrome is a rare autosomal dominant disorder, and 50% of the cases are due to the mutation of PTCH1, the major receptor of the hedgehog signaling pathway. Here we report a new Gorlin syndrome family found in Xinzhou, China. A further sequence analysis found a novel PTCH1 INDEL mutation, NM_001083602.2: c.1516_1524delinsTGAGCTGGAGCTCCG (p. Ala506*), leading an N Terminal truncated protein. This truncated PTCH1 was considered as non-functional version as it loses almost all functional domains, including the 4-12 transmembrane domains and the intracellular and extracellular domains accordingly. Although the effect of the N-terminal truncated PTCH1 is not clear, Gorlin syndrome in these cases is due to haploinsufficiency. Our report enriches the Gorlin syndrome database and will help

SUBMITTER: Huang Z 

PROVIDER: S-EPMC6963077 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature