通过外显子组测序在一个家族中鉴定出的奥尔波特综合征和单基因糖尿病的致病变异。
Pathogenic variants of Alport syndrome and monogenic diabetes identified by exome sequencing in a family.
作者信息
Watanabe Hirofumi, Goto Shin, Hosojima Michihiro, Kabasawa Hideyuki, Imai Naofumi, Ito Yumi, Narita Ichiei
机构信息
Division of Clinical Nephrology and Rheumatology, Kidney Research Center, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Department of Clinical Nutrition Science, Kidney Research Center, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
出版信息
Hum Genome Var. 2023 Feb 2;10(1):5. doi: 10.1038/s41439-023-00233-0.
We present a family of two female Alport syndrome patients with a family history of impaired glucose tolerance. Whole exome sequencing identified a novel heterozygous variant of COL4A5 NM_033380.3: c.2636 C > A (p.S879*) and a rare variant of GCK NM_001354800.1: c.1135 G > A (p.A379T) as the causes of Alport syndrome and monogenic diabetes, respectively. Two independent pathogenic variants affected the clinical phenotypes. Clinical next-generation sequencing is helpful for identifying the causes of patients' manifestations.
我们报告了一个有糖耐量受损家族史的两名女性阿尔波特综合征患者的家系。全外显子组测序确定了COL4A5 NM_033380.3的一个新的杂合变异：c.2636 C > A (p.S879*)和GCK NM_001354800.1的一个罕见变异：c.1135 G > A (p.A379T)，分别为阿尔波特综合征和单基因糖尿病的病因。两个独立的致病变异影响了临床表型。临床下一代测序有助于确定患者临床表现的病因。
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