Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with

• 作 者: Zhan Qi Ying Shen Qian Fu Wei
• 机 构: BeijingKeyLaboratoryforGeneticsofBirthDefects,BeijingKeyLaboratoryforChronicRenalDiseaseandBloodPuri
• 出 处: 中国科学：生命科学英文版
• 发表日期: 2017年7期
• 关键词: 全基因组测序 综合征 突变 复合 家系 遗传异质性 BBS 营养不良 Bardet-Biedl syndrome MKKS BBS6 NPHP1 whole-e

Bardet-Biedl syndrome(BBS) is a genetically heterogeneous disorder characterized by retinal dystrophy, polydactyly, obesity,developmental delay, and renal defects. At least 21 candidate BBS-associated genes(BBS1-19, NPHP1, and IFT172) have previously been