title: POMGnT1 gene alterations in a family with neurological abnormalities.
abstract: Muscle-eye-brain disease (MEB), is caused by mutations in the POMGnT1 gene. We describe a white family with two siblings affected with congenital hypotonia early-onset glaucoma, and psychomotor delays. Brain magnetic resonance images (MRIs) showed hydrocephalus, bilateral frontal polymicrogyria, abnormal cerebellum, and characteristic flattened dystrophic pons. We identified novel POMGnT1 gene alterations in this family. Both affected siblings were found to be compound hetrozygotes and carried two missense changes inherited from their mother and one missense change (p.R442C) inherited from their father. Our findings further define the phenotypic spectrum of MEB and its occurrence in the US population.
authors.affiliation: J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA.
authors.forename: Virginie S
authors.initials: VS
authors.lastname: Vervoort
authors.forename: Kenton R
authors.initials: KR
authors.lastname: Holden
authors.forename: Kennedy C
authors.initials: KC
authors.lastname: Ukadike
authors.forename: Julianne S
authors.initials: JS
authors.lastname: Collins
authors.forename: Robert A
authors.initials: RA
authors.lastname: Saul
authors.forename: Anand K
authors.initials: AK
authors.lastname: Srivastava
mesh_terms: D001921:Brain / Q000002:abnormalities* / Q000033:anatomy & histology; D002648:Child; D002874:Chromosome Mapping; D000013:Congenital Abnormalities; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009123:Muscle Hypotonia / Q000151:congenital; D018482:Muscle, Skeletal / Q000002:abnormalities; D020125:Mutation, Missense; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D044465:White People
chemical_list: D017351:N-Acetylglucosaminyltransferases; C443106:protein O-mannose beta-1,2-N-acetylglucosaminyltransferase