title: Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature.
abstract: Congenital abnormalities of the nail are rare conditions that are most frequently associated with congenital ectodermal syndromes involving several of the epidermal appendages including the skin, teeth, hair and nails. Isolated recessive nail dysplasia (IRND) is much rarer but has recently been recognized as a condition resulting in 20-nail dystrophy in the absence of other cutaneous or extracutaneous findings. A few case reports have identified mutations in the Frizzled 6 (FZD6) gene in families presenting with abnormal nails consistent with IRND. These reports have highlighted the role of Wnt-FZD signalling in the process of nail formation. We report three families presenting with features of IRND, in whom we identified mutations in FZD6, including one previously unreported mutation.
authors: Dermatology Department, Walsall Healthcare NHS Trust, Walsall, UK.
authors: C
authors: C
authors: Kasparis
authors: Dermatology Department, Walsall Healthcare NHS Trust, Walsall, UK.
authors: D
authors: D
authors: Reid
authors: Centre for Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, UK.
authors: N J
authors: NJ
authors: Wilson
authors: Department of Medical Genetics, Haydarpasa Numune Hospital, Istanbul, Turkey.|Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
authors: V
authors: V
authors: Okur
authors: Centre for Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, UK.|Division of Computational Biology, School of Life Sciences, University of Dundee, Dundee, UK.
authors: C
authors: C
authors: Cole
authors: Department of Dermatology, University of Utah, Salt Lake City, UT, USA.
authors: C D
authors: CD
authors: Hansen
authors: Institute of Human Genetics, University of Bonn, Bonn, Germany.|Institute of Medical Genetics and Applied Genomics and Department of Obstetrics and Gynecology, University Hospital of Tübingen, Tübingen, Germany.
authors: K
authors: K
authors: Bosse
authors: Institute of Human Genetics, University of Bonn, Bonn, Germany.
authors: R C
authors: RC
authors: Betz
authors: Dermatology Department, Walsall Healthcare NHS Trust, Walsall, UK.
authors: M
authors: M
authors: Khan
authors: Centre for Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, UK.|Pachyonychia Congenita Project, Salt Lake City, UT, USA.
authors: F J D
authors: FJ
authors: Smith
mesh_terms: D002675:Child, Preschool; D005260:Female; D051157:Frizzled Receptors / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009260:Nail Diseases / Q000150:complications / Q000151:congenital* / Q000209:etiology / Q000235:genetics; D009264:Nails, Malformed / Q000209:etiology / Q000235:genetics*
chemical_list: C484687:FZD6 protein, human; D051157:Frizzled Receptors