title: A novel 9 bp deletion in the filamin a gene causes an otopalatodigital-spectrum disorder with a variable, intermediate phenotype.
abstract: 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 early lethality in male children. The phenotype of female individuals in this family is variable and rather mild, and bridges the phenotypes of various OPD-spectrum disorders.
authors.affiliation: Department of Medical Genetics, Medical University, Plovdiv, Bulgaria.
authors.forename: Margarita
authors.initials: M
authors.lastname: Stefanova
authors.forename: Peter
authors.initials: P
authors.lastname: Meinecke
authors.forename: Andreas
authors.initials: A
authors.lastname: Gal
authors.forename: Hanno
authors.initials: H
authors.lastname: Bolz
mesh_terms: D001483:Base Sequence; D003285:Contractile Proteins / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D064448:Filamins; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D008297:Male; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D017384:Sequence Deletion; D014034:Toes / Q000002:abnormalities
chemical_list: D003285:Contractile Proteins; D064448:Filamins; D008840:Microfilament Proteins; D004247:DNA