Mullegama-Klein-Martinez syndrome
Definition:
Mullegama-Klein-Martinez syndrome (MKMS) is an X-linked neurodevelopmental disorder characterized by developmental delay, microcephaly, and congenital anomalies. It has been reported that mutations in STAG2 cause this disease. STAG2 encodes a cohesin subunit.
References:
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[1]. Fernanda C Soardi, et al. Familial STAG2 germline mutation defines a new human cohesinopathy. NPJ Genom Med. 2017 Mar 20;2:7. [Content Brief]
[2]. Sureni V Mullegama, et al. De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies. Am J Med Genet A. 2017 May;173(5):1319-1327. [Content Brief]
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