Couser Natario L, Masood Maheer M, Strande Natasha T, Foreman Ann Katherine M, Crooks Kristy, Weck Karen E, Lu Mei, Wilhelmsen Kirk C, Roche Myra, Evans James P, Berg Jonathan S, Powell Cynthia M
Department of Ophthalmology, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
Am J Med Genet A. 2015 Sep;167A(9):2176-81. doi: 10.1002/ajmg.a.37129. Epub 2015 Apr 29.
The Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 (MCAHS1) has been described in two families to date. We describe a 2-year-old Mexican American boy with the syndrome and additional manifestations not yet reported as part of the phenotype. The patient presented with severe hypotonia, microphallus and left cryptorchidism, and was later diagnosed with epilepsy and severe cortical visual impairment. He also had supernumerary nipples, pectus excavatum, a short upturned nose, fleshy ear lobes, and a right auricular pit. Massively parallel exome sequencing and analysis revealed two novel compound heterozygous missense (Trp136Gly and Ser859Thr) variants in the PIGN gene. This report extends and further defines the phenotype of this syndrome.
多发性先天性异常-肌张力减退-癫痫综合征1（MCAHS1）迄今已在两个家族中被描述。我们报告了一名患有该综合征的2岁墨西哥裔美国男孩，其具有一些尚未作为该综合征表型一部分被报道的其他表现。该患者表现为严重肌张力减退、小阴茎和左侧隐睾，后来被诊断患有癫痫和严重的皮质视觉障碍。他还具有多乳头、漏斗胸、短而上翘的鼻子、肉质耳垂和右耳窝。大规模平行外显子组测序和分析揭示了PIGN基因中的两个新的复合杂合错义（Trp136Gly和Ser859Thr）变异。本报告扩展并进一步明确了该综合征的表型。
