A homozygous R148W mutation in Semaphorin 7A causes progressive familial intrahepatic cholestasis

ABSTRACT: Semaphorin 7A (SEMA7A) is a membrane-bound protein that involves axon growth and other biological processes. SEMA7A mutations are associated with vertebral fracture and Kallmann syndrome. Here we report a case with a mutation in SEMA7A that displays familial cholestasis. WGS reveals a SEMA7A_R148W homozygous mutation in a female child with elevated levels of serum ALT, AST, and total bile acid (TBA) of unknown etiology. This patient also carried a SLC10A1_S267F allele, but Slc10a1_S267F homozygous mice exhibited normal liver function. Similar to the child, Sema7a_R145W homozygous mice displayed elevated levels of serum ALT, AST, and TBA. Remarkably, liver histology and LC-MS/MS analyses exhibited hepatocyte hydropic degeneration and increased liver bile acids (BA) levels in Sema7a_R145W ho

SUBMITTER: Qiong Pan 

PROVIDER: S-SCDT-EMM-2021-14563 | biostudies-other |

REPOSITORIES: biostudies-other