由于遗传的反复出现的 MYRF 变异导致的不同临床表现和家族内变异性。
Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variant.
机构信息
Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), New Delhi, India.
Department of Ophthalmology, All India Institute of Medical Sciences (AIIMS), New Delhi, India.
出版信息
Am J Med Genet A. 2022 Jul;188(7):2187-2191. doi: 10.1002/ajmg.a.62744. Epub 2022 Apr 1.
MYRF monoallelic variants have been described in syndromic forms characterized by cardiac-urogenital syndrome and isolated nanophthalmos with/without minor systemic manifestations. We describe a large family with a paternally inherited pathogenic variant in MYRF that manifested as congenital diaphragmatic hernia (CDH), cardiac and urogenital abnormalities, and/or nanophthalmos with significant intrafamilial variability.
已在表现为心脏-泌尿生殖综合征和孤立性小眼球伴/不伴轻微全身表现的综合征形式中描述了 MYRF 单等位基因变异。我们描述了一个大型家族，该家族中的 MYRF 存在父系遗传的致病性变异，表现为先天性膈疝 (CDH)、心脏和泌尿生殖系统异常和/或小眼球，具有显著的家族内变异性。
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