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.

中文翻译：

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Alport 综合征和单基因糖尿病的致病变异通过家族中的外显子组测序鉴定

我们介绍了一个由两名女性 Alport 综合征患者组成的家庭，这些患者具有糖耐量受损的家族史。全外显子组测序鉴定了COL4A5 NM_033380.3 的一个新杂合变体：c.2636 C > A (p.S879*) 和GCK NM_001354800.1 的一个罕见变体：c.1135 G > A (p.A379T) 作为原因分别是 Alport 综合征和单基因糖尿病。两个独立的致病变异影响临床表型。临床二代测序有助于确定患者表现的原因。