一个患有泽尔韦格谱系障碍的摩洛哥家庭中的一种新型突变。
A novel mutation in a Moroccan family with Zellweger spectrum disorders.
作者信息
Bousfiha Amale, Bakhchane Amina, Charoute Hicham, Riahi Zied, Snoussi Khalid, Rouba Hassan, Bonnet Crystel, Petit Christine, Barakat Abdelhamid
机构信息
Human Molecular Genetics Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco.
INSERM UMRS1120, Institut de la Vision, Paris, France.
出版信息
Hum Genome Var. 2017 Apr 13;4:17009. doi: 10.1038/hgv.2017.9. eCollection 2017.
Mutations in the gene are usually associated with recessive inherited diseases including Zellweger spectrum disorders. In this work, we identified a new pathogenic missense homozygous mutation (p.Leu1026Pro, c.3077T>C) in two Moroccan syndromic deaf siblings from consanguineous parents. This variation is located in the P-loop containing nucleoside triphosphate hydrolase of protein domain and probably causes an alteration in the hydrolysis of ATP.
该基因的突变通常与包括泽尔韦格谱系障碍在内的隐性遗传疾病相关。在这项研究中，我们在两名来自近亲父母的摩洛哥综合征性耳聋同胞中鉴定出一种新的致病性错义纯合突变（p.Leu1026Pro，c.3077T>C）。这种变异位于蛋白质结构域中含核苷三磷酸水解酶的P环，可能导致ATP水解发生改变。
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