弯刀综合征
泌尿生殖系统
先天性膈疝
膈疝
生物
外显子组测序
肺发育不全
腹裂
病理
发育不良
胸腺退化
医学
内科学
肺
解剖
遗传学
基因
疝
胎儿
外科
突变
T细胞
怀孕
免疫系统
作者
Hailey Pinz,Louise C. Pyle,Dong Li,Kosuke Izumi,Cara Skraban,Jennifer Tarpinian,Stephen R. Braddock,Aida Telegrafi,Kristin G. Monaghan,Elaine H. Zackai,Elizabeth Bhoj
摘要
Myelin Regulatory Factor (MYRF) is a transcription factor that has previously been associated with the control of the expression of myelin-related genes. However, it is highly expressed in human tissues and mouse embryonic tissues outside the nervous system such as the stomach, lung, and small intestine. It has not previously been reported as a cause of any Mendelian disease. We report here two males with Scimitar syndrome [MIM 106700], and other features including penoscrotal hypospadias, cryptorchidism, pulmonary hypoplasia, tracheal anomalies, congenital diaphragmatic hernia, cleft spleen, thymic involution, and thyroid fibrosis. Gross neurologic functioning appears to be within normal limits. In both individuals a de novo variant in MYRF was identified using exome sequencing. Neither variant is found in gnomAD. Heterozygous variants in MYRF should be considered in patients with variants of Scimitar syndrome and urogenital anomalies.
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