期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 167, 期 9, 页码 2176-2181出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.37129
关键词
multiple congenital anomalies-hypotonia-seizures syndrome-1(MCAHS1); PIGN gene; North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing (NCGENES); exome sequencing
资金
- NHGRI [1UO1HG006487-01]
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. (C) 2015 Wiley Periodicals, Inc.
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