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Am J Med Genet A. 2015 Sep;167A(9):2176-81. doi: 10.1002/ajmg.a.37129. Epub 2015 Apr 29.

The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.

Author information

1
Department of Ophthalmology, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
2
Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
3
Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
4
University of North Carolina School of Medicine, Chapel Hill, North Carolina.
5
Department of Pathology and Laboratory Medicine, University of North Carolina School of Medicine, Chapel Hill, North Carolina.

Abstract

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.

KEYWORDS:

North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing (NCGENES); PIGN gene; exome sequencing; multiple congenital anomalies-hypotonia-seizures syndrome-1(MCAHS1)

PMID:
25920937
PMCID:
PMC6108425
DOI:
10.1002/ajmg.a.37129
[Indexed for MEDLINE]
Free PMC Article

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