Open AccessIdentification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome
Author(s) -
Tao Shen,
Jiming Gao,
Tao Shou,
Li Li,
Jinping Zhang,
Qian Zhao,
Xingcheng Yan
Publication year - 2019
Publication title -
journal of the chinese medical association
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.535
H-Index - 42
eISSN - 1728-7731
pISSN - 1726-4901
DOI - 10.1097/jcma.0000000000000011
Subject(s) - medicine , frameshift mutation , bardet–biedl syndrome , genetics , identification (biology) , mutation , pediatrics , phenotype , gene , biology , botany
Bardet-Biedl Syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder with a wide spectrum of clinical features. To date, mutations in 21 different genes (BBS1-21) have been identified as causing isolated or complex BBS phenotypes. In this report, we present three Chinese Miao ethnic patients who were diagnosed with BBS on the basis of characteristic clinical features and investigated the exsome of these patients.