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POMGnT1 gene alterations in a family with neurological abnormalities
Author(s) -
Vervoort Virginie S.,
Holden Kenton R.,
Ukadike Kennedy C.,
Collins Julianne S.,
Saul Robert A.,
Srivastava Anand K.
Publication year - 2004
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20172
Subject(s) - missense mutation , polymicrogyria , hypotonia , population , genetics , medicine , phenotype , biology , gene , magnetic resonance imaging , environmental health , radiology
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. Ann Neurol 2004;56:143–148