OMIM: 236670Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | POMT1 |
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| Dna Change: | insertion of an inversed Alu repeated |
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| Protein Change: | |
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| Mutation Type: | Insertion |
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| Mutation Effect: | Frameshift |
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| Location: | exon 3 |
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| Transcript: | |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| France | NA | NA | 5 fetuses/ 3 families | NA | Bouchet C et al., 2007Bouchet C, Vuillaumier-Barrot S, Gonzales M, Boukari S, Bizec CL, Fallet C, Delezoide AL, Moirot H, Laquerriere A, Encha-Razavi F, Durand G, Seta N, . Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families.. Mol. Genet. Metab.. 2007; 90(1):93-6 |
References
Bouchet C, Vuillaumier-Barrot S, Gonzales M, Boukari S, Bizec CL, Fallet C, Delezoide AL, Moirot H, Laquerriere A, Encha-Razavi F, Durand G, Seta N, Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families.Mol. Genet. Metab.. 2007; 90(1):93-6