Shaukat Memoona, Ishaq Tayyaba, Muhammad Niaz, Naz Sadaf
School of Biological Sciences, University of the Punjab, Lahore, Pakistan.
School of Biological Sciences, University of the Punjab, Lahore, Pakistan.
Eur J Med Genet. 2020 Mar;63(3):103755. doi: 10.1016/j.ejmg.2019.103755. Epub 2019 Sep 12.
BBS7 and RIN2 variants cause Bardet Biedl syndrome and RIN2 syndrome respectively. We investigated a consanguineous family in which five individuals manifested different phenotypes. Whole-exome sequencing analyses of the individual with multiple phenotypes revealed homozygosity for novel pathogenic variants in his DNA sample; a frameshift variant in RIN2 (c.1938delT) and a splice-site variant in BBS7 (c.1677-1G > A). Other affected individuals were homozygous for a variant in only one of either gene and consequently manifested phenotypes respective to one disorder. Our work shows that exome sequencing of the most severely affected individual can help in the identification of pathogenic variants in more than one involved genes in a particular family.
BBS7和RIN2基因变异分别导致巴德-比德尔综合征和RIN2综合征。我们研究了一个近亲家庭，其中五名个体表现出不同的表型。对具有多种表型的个体进行全外显子组测序分析，发现其DNA样本中存在新的致病变异纯合子；RIN2基因的一个移码变异（c.1938delT）和BBS7基因的一个剪接位点变异（c.1677-1G > A）。其他受影响个体仅在这两个基因中的一个基因上存在变异纯合子，因此表现出与一种疾病相应的表型。我们的研究表明，对受影响最严重的个体进行外显子组测序有助于识别特定家庭中多个相关基因的致病变异。
