Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.

Journal article

The otopalatodigital syndrome (OPD) spectrum disorders are a heterogeneous group of skeletal dysplasias caused by mutations in the X-linked gene, FLNA. All OPD spectrum disorders (otopalatodigital syndromes types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome) exhibit significant interfamilial variability in their expressivity, especially in female subjects. Factors contributing to this may include allelic heterogeneity, variation in the degree of skewing of X inactivation ...

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Authors: Robertson, S; Thompson, S; Morgan, T; Holder-Espinasse, M; Martinot-Duquenoy, V

• Publication status: Published
• Journal: European journal of human genetics : EJHG
• Volume: 14
• Issue: 5
• Pages: 549-554
• Publication date: 2006-05-01
• DOI: 10.1038/sj.ejhg.5201586
• EISSN: 1476-5438
• ISSN: 1018-4813
• Language: English
• Keywords: Adolescent; Syndrome; Microfilament Proteins; Family Health; Mosaicism; Chromosomes, Human, X; Female; Phenotype; Mutation; Osteochondrodysplasias; Diseases in Twins; Humans; Germ-Line Mutation; Contractile Proteins; Male