The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.
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.
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.|Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
Natario L
NL
Couser
University of North Carolina School of Medicine, Chapel Hill, North Carolina.
Maheer M
MM
Masood
Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
Natasha T
NT
Strande
Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
Ann Katherine M
AK
Foreman
Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.|Department of Pathology and Laboratory Medicine, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
Kristy
K
Crooks
Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.|Department of Pathology and Laboratory Medicine, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
Karen E
KE
Weck
Department of Pathology and Laboratory Medicine, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
Mei
M
Lu
Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
Kirk C
KC
Wilhelmsen
Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.|Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
Myra
M
Roche
Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
James P
JP
Evans
Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
Jonathan S
JS
Berg
Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.|Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, North Carolina.
Cynthia M
CM
Powell
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D059472:Exome / Q000235:genetics; D006801:Humans; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010641:Phenotype; D010770:Phosphotransferases / Q000235:genetics; D012640:Seizures / Q000235:genetics*; D013577:Syndrome
C561296:PIGN protein, human; D010770:Phosphotransferases
North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing (NCGENES); PIGN gene; exome sequencing; multiple congenital anomalies-hypotonia-seizures syndrome-1(MCAHS1)