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

Détails

ID Serval
serval:BIB_141214B52544
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.
Périodique
Nature Genetics
Auteur⸱e⸱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
Statut éditorial
Publié
Date de publication
1998
Volume
19
Numéro
1
Pages
70-73
Langue
anglais
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
Résumé
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.
Mots-clé
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
Création de la notice
14/03/2011 16:09
Dernière modification de la notice
20/08/2019 12:42
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