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          Institute: MPI für molekulare Genetik     Collection: Research Group Development and Disease     Display Documents



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ID: 541590.0, MPI für molekulare Genetik / Research Group Development and Disease
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.
Authors:Kornak, U.; Brancati, F.; Le Merrer, M.; Lichtenbelt, K.; Höhne, W.; Tinschert, S.; Garaci, F. G.; Dallapiccola, B.; Nürnberg, P.
Language:English
Date of Publication (YYYY-MM-DD):2010-03-26
Title of Journal:American Journal of Medical Genetics Part A
Journal Abbrev.:Am J Med Genet A
Volume:152A
Issue / Number:4
Start Page:870
End Page:874
Copyright:© 2010 Wiley-Liss, Inc.
Review Status:not specified
Audience:Experts Only
Abstract / Description:Craniometaphyseal dysplasia (CMD) is a rare, sclerosing skeletal disorder caused by mutations in ANKH, which encodes a putative pyrophosphate transporting membrane protein. Six distinct ANKH mutations have been described to date. We report here on three novel mutations in simplex patients with CMD. The c.1015T>C (p.Cys339Arg) mutation found in Patient A was associated with congenital facial palsy, early-onset conductive hearing loss, and a generalized undermodeling of the long bones. The c.1172T>C (p.Leu391Pro) mutation in Patient B was associated with facial palsy, progressive conductive hearing loss, and generalized undermodeling of tubular bones. A milder phenotype without cranial nerve affection was observed in Patient C, associated with a c.1001T>G (p.Leu334Arg) mutation. All affected residues lie in evolutionarily conserved sequence blocks. These additional cases and the associated mutations contribute to an improved appreciation of the variability of this rare skeletal dysplasia. (c) 2010 Wiley-Liss, Inc.
Free Keywords:craniometaphyseal dysplasia;
ANKH;
clinical variability;
novel mutations
Comment of the Author/Creator:Correspondence: Peter Nürnberg, Cologne Center for Genomics (CCG), Universität zu Köln, Weyertal 115b, 50931 Köln, Germany.
External Publication Status:published
Document Type:Article
Communicated by:Stefan Mundlos
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Institute of Medical Genetics, Charité Universitätsmedizin, Berlin, Germany;
2.IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy:
3.INSERM U393, Hôpital Necker, Enfants Malades, Paris, France;
4.Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands;
5.Institut für Biochemie, Charité – Universitätsmedizin Berlin, Germany;
6.Institute of Clinical Genetics, Medical Faculty Carl Gustav Carus, Technical University Dresden, Dresden, Germany;
7.IRCCS San Raffaele Pisana, Rome, Italy;
8.Department of Diagnostic Imaging and Interventional Radiology, University of Tor Vergata, Rome, Italy;
9.Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany;
10.Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany;
11.Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
Identifiers:ISSN:1552-4825 10.1002/ajmg.a.33301 [ID No:1]
URL:http://www.ncbi.nlm.nih.gov/pubmed/20358596 [ID No:2]
DOI:10.1002/ajmg.a.33301 [ID No:3]
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