RGD Reference Report - POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. - Rat Genome Database

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POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

Authors: Biancheri, R  Bertini, E  Falace, A  Pedemonte, M  Rossi, A  D'Amico, A  Scapolan, S  Bergamino, L  Petrini, S  Cassandrini, D  Broda, P  Manfredi, M  Zara, F  Santorelli, FM  Minetti, C  Bruno, C 
Citation: Biancheri R, etal., Arch Neurol. 2006 Oct;63(10):1491-5.
RGD ID: 1599152
Pubmed: PMID:17030669   (View Abstract at PubMed)
DOI: DOI:10.1001/archneur.63.10.1491   (Journal Full-text)

BACKGROUND: Muscle-eye-brain disease is a congenital muscular dystrophy with eye and brain involvement due to POMGnT1 mutations. OBJECTIVE: To describe the clinical and molecular features of 3 Italian patients with POMGnT1 mutations. DESIGN: Case reports. PATIENTS: One patient had muscle and brain abnormalities without eye involvement. Two patients had a classic muscle-eye-brain disease phenotype with different levels of clinical severity. RESULTS: Brain magnetic resonance imaging showed cortical malformation and posterior fossa involvement. Immunofluorescence for glycosylated alpha-dystroglycan performed on muscle biopsy specimens demonstrated an absent signal in 1 patient and reduced staining in 2 patients. Molecular analysis identified 5 mutations, 2 of which are novel. CONCLUSION: This article adds to what is known about the genotype-phenotype correlation and expands our awareness of the clinical spectrum associated with POMGnT1 mutations.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
muscular dystrophy  IAGP 1599152DNA:missense mutations more ...RGD 
muscular dystrophy  ISOPOMGNT1 (Homo sapiens)1599152; 1599152DNA:missense mutations more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal brain morphology  IAGP 1599152DNA:missense mutations more ...RGD 
Abnormality of the musculature  IAGP 1599152DNA:missense mutations more ...RGD 
Intellectual disability  IAGP 1599152DNA:missense mutations more ...RGD 
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