No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome.
No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome.
复制标题
没有证据表明 Amish Mckusick-Kaufman 综合征中 MKKS/BBS 基因座的三基因遗传。
DOI：
10.1002/ajmg.a.30593
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发表时间：
2005
期刊：
影响因子：
--
通讯作者：
Biesecker,LeslieG
中科院分区：
文献类型：
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作者：
Nakane,Takaya;Biesecker,LeslieG
It has been hypothesized that two mutations in one gene are not sufficient and that three mutations between two genes are required for penetrance in some cases of Bardet–Biedl syndrome (the so‐called “triallelic inheritance” model). McKusick–Kaufman syndrome (MKS) is allelic to one form of Bardet–Biedl syndrome (BBS). We describe an Amish family with MKS, where three children were affected with homozygousMKKS(BBS6) mutations (H84Y and A242S on both alleles), their father was a carrier, and their mother was homozygous for the sameMKKSmutations, but she was non‐penetrant. Genotyping and/or sequencing ofBBS1,BBS2,BBS3,BBS4,BBS5,BBS7, andBBS8excluded “triallelic inheritance” for each gene either by an incompatible inheritance pattern or an absence of mutations in the coding region and the intronic splice junctions of these genes. We conclude that the “triallelic” model does not explain the incomplete penetrance of MKS. Published 2005 Wiley‐Liss, Inc.
