Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.

Details

Serval ID
serval:BIB_141214B52544
Type
Article: article from journal or magazin.
Collection
Publications
Title
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.
Journal
Nature Genetics
Author(s)
Shears D.J., Vassal H.J., Goodman F.R., Palmer R.W., Reardon W., Superti-Furga A., Scambler P.J., Winter R.M.
ISSN
1061-4036 (Print)
ISSN-L
1061-4036
Publication state
Published
Issued date
1998
Volume
19
Number
1
Pages
70-73
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.Publication Status: ppublish
Abstract
Leri-Weill Dyschondrosteosis (LWD; OMIM 127300) is a dominantly inherited skeletal dysplasia characterized by disproportionate short stature with predominantly mesomelic limb shortening. Expression is variable and consistently more severe in females, who frequently display the Madelung deformity of the forearm (shortening and bowing of the radius with dorsal subluxation of the distal ulna). The rare Langer Mesomelic Dysplasia (LD; OMIM 249700), characterized by severe short stature with hypoplasia/aplasia of the ulna and fibula, has been postulated to be the homozygous form of LWD (refs 4-6). In a six-generation pedigree with LWD, we established linkage to the marker DXYS6814 in the pseudoautosomal region (PAR1) of the X and Y chromosomes (Z max=6.28; theta=0). Linkage analysis of three smaller pedigrees increased the lod score to 8.68 (theta=0). We identified submicroscopic PAR1 deletions encompassing the recently described short stature homeobox-containing gene SHOX (refs 7,8) segregating with the LWD phenotype in 5 families. A point mutation leading to a premature stop in exon 4 of SHOX was identified in one LWD family.
Keywords
Amino Acid Sequence, Base Sequence, DNA, Female, Genetic Linkage, Homeodomain Proteins/genetics, Humans, In Situ Hybridization, Fluorescence, Lod Score, Male, Molecular Sequence Data, Mutation, Pedigree
Pubmed
Web of science
Create date
14/03/2011 16:09
Last modification date
20/08/2019 12:42
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