A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhauser syndrome.

ABSTRACT: The combination of cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines Boucher‑Neuhäuser syndrome (BNS), which has been associated with autosomal‑recessive mutations in the patatin‑like phospholipase domain containing 6 (PNPLA6) gene. However, no BNS cases have been reported in mainland China. In the present study, to the best of the authors' knowledge, the first patient with BNS was identified in China. A 39‑year‑old male was first diagnosed with hypogonadotropic hypogonadism. The proband additionally exhibited retinal degeneration and cerebellar dystrophy. Whole exome sequencing identified a compound heterozygous mutation in PNPLA6 (c.3386G>T+ c.3534G>C). The mutant amino acids were highly conserved and the mutations were predicted to be deleterious

SUBMITTER: Zheng R 

PROVIDER: S-EPMC6059678 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature