Low frequency of parental mosaicism in de novo COL4A5 mutations in X-linked Alport syndrome.,Molecular Genetics & Genomic Medicine

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Low frequency of parental mosaicism in de novo COL4A5 mutations in X-linked Alport syndrome.
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2020-08-18 , DOI: 10.1002/mgg3.1452
Ole Magnus Bjorgaas Helle _{1,

2} , Torkild Høieggen Pedersen _{1,

2} , Lilian Bomme Ousager _{1,

2} , Mads Thomassen _{1,

2} , Jens Michael Hertz _{1,

2}

Affiliation

Alport syndrome is a progressive hereditary kidney disease clinically presenting with haematuria, proteinuria, and early onset end‐stage renal disease, and often accompanied by hearing loss and ocular abnormalities. The inheritance is X‐linked in the majority of families and caused by sequence variants in the COL4A5 gene encoding the α5‐chain of type‐IV collagen. The proportion of de novo COL4A5 sequence variants in X‐linked Alport syndrome has been reported between 12 and 15% in previous studies.

中文翻译：

X连锁Alport综合征从头发生的COL4A5突变中父母亲镶嵌的频率较低。

Alport综合征是一种进行性遗传性肾脏疾病，临床表现为血尿，蛋白尿和早期发作的终末期肾脏疾病，通常伴有听力损失和眼部异常。遗传在大多数家族中都是X连锁的，是由编码IV型胶原的α5链的COL4A5基因的序列变异引起的。在先前的研究中，据报道在X连锁Alport综合征中从头COL4A5序列变异的比例在12％至15％之间。

更新日期：2020-10-12

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