NDLI: Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.

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Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Kornak, Uwe Brancati, Francesco Le Merrer, Martine Lichtenbelt, Klaske Höhne, Wolfgang Tinschert, Sigrid Garaci, Francesco Giuseppe Dallapiccola, Bruno Nürnberg, Peter
Description	Country affiliation: Germany Author Affiliation: Kornak U ( Institute of Medical Genetics, Charité Universitätsmedizin, Berlin, Germany.)
Abstract	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.
File Format	HTM / HTML
ISSN	15524825
Issue Number	4
Volume Number	152A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-04-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Bone Diseases, Developmental Complications Genetics Hearing Loss, Conductive Membrane Proteins Mutation Phosphate Transport Proteins Adolescent Adult Amino Acid Sequence Pathology Child Child, Preschool Female Humans Infant Infant, Newborn Magnetic Resonance Imaging Male Chemistry Molecular Sequence Data Pregnancy Sclerosis Skull Tomography, X-ray Computed Young Adult Case Reports Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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