POMGnT1 gene alterations in a family with neurological abnormalities

Annals of Neurology
Virginie S VervoortAnand K Srivastava

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.

References

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Citations

Mar 11, 2010·Journal of Clinical Neuromuscular Disease·Anant M ShenoyBrian S Tseng
Dec 14, 2006·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Jerry R MendellPaul T Martin
Dec 11, 2008·Annals of Neurology·Emma ClementFrancesco Muntoni
Mar 31, 2009·Arquivos de neuro-psiquiatria·Umbertina Conti Reed
Feb 3, 2018·Journal of Inherited Metabolic Disease·R FranciscoVanessa Dos Reis Ferreira
Feb 12, 2019·Journal of Inherited Metabolic Disease·Rita FranciscoVanessa Dos Reis Ferreira

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