RGD Reference Report - Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate. - Rat Genome Database

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Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.

Authors: Vajsar, J  Baskin, B  Swoboda, K  Biggar, DW  Schachter, H  Ray, PN 
Citation: Vajsar J, etal., Neuromuscul Disord. 2008 Aug;18(8):675-7. doi: 10.1016/j.nmd.2008.05.014. Epub 2008 Jul 18.
RGD ID: 11532685
Pubmed: PMID:18640039   (View Abstract at PubMed)
DOI: DOI:10.1016/j.nmd.2008.05.014   (Journal Full-text)

Walker-Warburg Syndrome (WWS) is an alpha-dystroglycan deficient congenital muscular dystrophy that is associated with brain and eye abnormalities. Patients present with hypotonia, weakness, developmental delay, mental retardation and occasional seizures. Other abnormalities were also described including cleft lip and palate. Mutations in POMT1, POMT2, fukutin, FKRP and LARGE genes are found in 20-30% of children with WWS. We report a novel mutation in POMT1 gene and provide further evidence that WWS with cleft lip and palate is associated with POMT1 mutations. We recommend POMT1 analysis in WWS cases associated with cleft lip and palate when considering which gene to sequence first.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
cleft lip  IAGP 11532685associated with Walker-Warburg Syndrome more ...RGD 
cleft lip  ISOPOMT1 (Homo sapiens)11532685; 11532685associated with Walker-Warburg Syndrome more ...RGD 

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