RGD Reference Report - The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. - Rat Genome Database

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The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

Authors: Van Reeuwijk, J  Maugenre, S  Van den Elzen, C  Verrips, A  Bertini, E  Muntoni, F  Merlini, L  Scheffer, H  Brunner, HG  Guicheney, P  Van Bokhoven, H 
Citation: van Reeuwijk J, etal., Hum Mutat. 2006 May;27(5):453-9.
RGD ID: 11532686
Pubmed: PMID:16575835   (View Abstract at PubMed)
DOI: DOI:10.1002/humu.20313   (Journal Full-text)

The importance of O-glycosylation of alpha-dystroglycan (alpha-DG) is evident from the identification of POMT1 mutations in Walker-Warburg syndrome (WWS). Approximately one-fifth of the WWS patients show mutations in POMT1, which result in complete loss of protein mannosyltransferase activity. WWS patients are characterized by congenital muscular dystrophy (CMD) with severe brain and eye abnormalities. This suggests a crucial role for alpha-DG during development of these organs and tissues. Here we report new POMT1 mutations and polymorphisms in WWS patients. In addition, we report different compound heterozygous POMT1 mutations in four unrelated families that result in a less severe phenotype than WWS, characterized by CMD with calf hypertrophy, microcephaly, and mental retardation. Compared to WWS patients, these patients have milder structural brain abnormalities, and eye abnormalities were absent, except for myopia in some cases. In these patients we postulate that one or both transcripts for POMT1 confer residual protein O-mannosyltransferase activity. Our data suggest the existence of a disease spectrum of CMD including brain and eye abnormalities resulting from POMT1 mutations.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
muscular dystrophy  IAGP 11532686DNA:mutations: :multipleRGD 
muscular dystrophy  ISOPOMT1 (Homo sapiens)11532686; 11532686DNA:mutations: :multipleRGD 
Walker-Warburg syndrome  IAGP 11532686DNA:missense mutations more ...RGD 
Walker-Warburg syndrome  ISOPOMT1 (Homo sapiens)11532686; 11532686DNA:missense mutations more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Calf muscle hypertrophy  IAGP 11532686DNA:mutations: :multipleRGD 
Intellectual disability  IAGP 11532686DNA:mutations: :multipleRGD 
Microcephaly  IAGP 11532686DNA:mutations: :multipleRGD 
Objects Annotated

Genes (Rattus norvegicus)
Pomt1  (protein-O-mannosyltransferase 1)

Genes (Mus musculus)
Pomt1  (protein-O-mannosyltransferase 1)

Genes (Homo sapiens)
POMT1  (protein O-mannosyltransferase 1)


Additional Information