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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.
Pubmed: (View Article at PubMed) PMID:18640039
DOI: Full-text: DOI:10.1016/j.nmd.2008.05.014

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.


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CRRD Object Information
CRRD ID: 11532685
Created: 2016-09-02
Species: All species
Last Modified: 2016-09-02
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.