Cardiac-urogenital syndrome

Definition:

Cardiac-urogenital syndrome (CUGS) is characterized by congenital diaphragmatic hernia, congenital heart disease and genitourinary abnormalities. Mutations in MYRF have been identified in patients. MYRF is a membrane-associated transcription factor that plays a pivotal role in oligodendrocyte differentiation and myelination.

References:

[1]. Hailey Pinz, et al. De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. Am J Med Genet A. 2018 Apr;176(4):969-972. [Content Brief]

[2]. Hongjian Qi, et al. De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. PLoS Genet. 2018 Dec 10;14(12):e1007822. [Content Brief]

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