English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

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

Kornak, U., Brancati, F., Le Merrer, M., Lichtenbelt, K., Höhne, W., Tinschert, S., et al. (2010). Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. American Journal of Medical Genetics Part A, 152A(4), 870-874. doi:10.1002/ajmg.a.33301.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7B88-6 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7B89-4
Genre: Journal Article
Alternative Title : Am J Med Genet A

Files

show Files
hide Files
:
33301_ftp.pdf (Any fulltext), 220KB
 
File Permalink:
-
Name:
33301_ftp.pdf
Description:
-
Visibility:
Restricted (Max Planck Institute for Molecular Genetics, MBMG; )
MIME-Type / Checksum:
application/pdf
Technical Metadata:
Copyright Date:
-
Copyright Info:
eDoc_access: MPG
License:
-

Locators

show

Creators

show
hide
 Creators:
Kornak, U.1, Author              
Brancati, F., Author
Le Merrer, M., Author
Lichtenbelt, K., Author
Höhne, W., Author
Tinschert, S.1, Author              
Garaci, F. G., Author
Dallapiccola, B., Author
Nürnberg, P., Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

Content

show
hide
Free keywords: craniometaphyseal dysplasia; ANKH; clinical variability; novel mutations
 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.

Details

show
hide
Language(s): eng - English
 Dates: 2010-03-26
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: American Journal of Medical Genetics Part A
  Alternative Title : Am J Med Genet A
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 152A (4) Sequence Number: - Start / End Page: 870 - 874 Identifier: ISSN: 1552-4825 10.1002/ajmg.a.33301