RGD Reference Report - POMGnT1 gene alterations in a family with neurological abnormalities. - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

POMGnT1 gene alterations in a family with neurological abnormalities.

Authors: Vervoort, VS  Holden, KR  Ukadike, KC  Collins, JS  Saul, RA  Srivastava, AK 
Citation: Vervoort VS, etal., Ann Neurol. 2004 Jul;56(1):143-8.
RGD ID: 11071487
Pubmed: (View Article at PubMed) PMID:15236414
DOI: Full-text: DOI:10.1002/ana.20172

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.

Annotation

Disease Annotations    

Phenotype Annotations    

Human Phenotype
Objects Annotated

Genes (Rattus norvegicus)
Pomgnt1  (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-))

Genes (Mus musculus)
Pomgnt1  (protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase)

Genes (Homo sapiens)
POMGNT1  (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-))


Additional Information