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Analysis of short s...
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Grigelioniene, GiedreKarolinska Institutet
(author)
Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity
- Article/chapterEnglish2001
Publisher, publication year, extent ...
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Springer Science and Business Media LLC,2001
Numbers
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LIBRIS-ID:oai:lup.lub.lu.se:dcfaa3af-c554-490e-b857-08542d57f037
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https://lup.lub.lu.se/record/1121276URI
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https://doi.org/10.1007/s00439-001-0609-yDOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:1927758URI
Supplementary language notes
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Language:English
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Summary in:English
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Subject category:art swepub-publicationtype
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Subject category:ref swepub-contenttype
Notes
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Dyschondrosteosis (DCO; also called Leri-Weill syndrome) is a skeletal dysplasia characterised by disproportionate short stature because of mesomelic shortening of the limbs. Madelung deformity is a feature of DCO that is distinctive, variable in expressivity and frequently observed. Mutations of the SHOX (short stature homeobox-containing) gene have been previously described as causative in DCO. Isolated Madelung deformity (IMD) without the clinical characteristics of DCO has also been described in sporadic and a few familial cases but the genetic defect underlying IMD is unknown. In this study, we have examined 28 probands with DCO and seven probands with IMD for mutations in the SHOX gene by using polymorphic CA-repeat analysis, fluorescence in situ hybridisation (FISH), Southern blotting, direct sequencing and fibre-FISH analyses. This was combined with auxological examination of the probands and their family members. Evaluation of the auxological data showed a wide intra- and interfamilial phenotype variability in DCO. Out of 28 DCO probands, 22 (79%) were shown to have mutations in the SHOX gene. Sixteen unrelated DCO families had SHOX gene deletions. Four novel DCO-associated mutations were found in different families. In two additional DCO families, the previously described nonsense mutation (Arg195Stop) was detected. We conclude that mutations in the SHOX gene are the major factor in the pathogenesis of DCO. In a female proband with severe IMD and her unaffected sister, we detected an intrachromosomal duplication of the SHOX gene.
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Schoumans, JacquelineKarolinska Institutet
(author)
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Neumeyer, Lo
(author)
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Ivarsson, StenLund University,Lunds universitet,Pediatrisk endokrinologi,Forskargrupper vid Lunds universitet,Paediatric Endocrinology,Lund University Research Groups(Swepub:lu)pedi-siv
(author)
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Eklof, Ole
(author)
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Enkvist, Ove
(author)
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Tordai, Paul
(author)
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Fosdal, Inger
(author)
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Myhre, Anne
(author)
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Westphal, Otto
(author)
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Nilsson, Nils
(author)
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Elfving, MariaLund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)pedi-mel
(author)
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Ellis, Ian
(author)
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Anderlid, Britt-MarieKarolinska Institutet
(author)
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Fransson, Ingegerd
(author)
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Tapia-Paez, IsabelKarolinska Institutet
(author)
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Nordenskjold, MagnusKarolinska Institutet
(author)
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Hagenas, LarsKarolinska Institutet
(author)
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Dumanski, Jan P.
(author)
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Karolinska InstitutetPediatrisk endokrinologi
(creator_code:org_t)
Related titles
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In:Human Genetics: Springer Science and Business Media LLC109:5, s. 551-5581432-12030340-6717
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Grigelioniene, G ...
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Schoumans, Jacqu ...
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Neumeyer, Lo
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Ivarsson, Sten
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Eklof, Ole
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Enkvist, Ove
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Tordai, Paul
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Fosdal, Inger
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Myhre, Anne
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Westphal, Otto
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Nilsson, Nils
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Elfving, Maria
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Ellis, Ian
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Anderlid, Britt- ...
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Fransson, Ingege ...
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Tapia-Paez, Isab ...
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Nordenskjold, Ma ...
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Hagenas, Lars
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Dumanski, Jan P.
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Human Genetics
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Karolinska Institutet