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Article

A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.

American journal of medical genetics. Part A - 1 Feb 2005

Stefanova Margarita, Meinecke Peter, Gal Andreas, Bolz Hanno

Abstract excerpt

We report a four-generation pedigree with six affected females with cranial hyperostosis and various skeletal abnormalities. The phenotype is similar to frontometaphyseal dysplasia, which is part of the otopalatodigital (OPD) spectrum. We identified a novel in-frame deletion in exon 29 of the Filamin A gene (c.4904_4912del, p.R1635_V1637del) encoding rod domain repeat 14 of the protein. The disorder resulted in...

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PMID: 15654694
DOI: 10.1002/ajmg.a.30484

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