A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasia

A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasia

Campomelic dysplasia (CD) is an autosomal dominant skeletal malformation syndrome with features including bowed lower limbs with pretibial skin dimpling, hypoplastic scapulae and pelvic bones, and 11 pairs of ribs. Mutations in the SOX9 gene have been identified to cause CD. The gene encodes a transcription factor containing a dimerization, a high mobility group, and a C-terminal transactivation (TA) domain. Up to now, 35 SOX9 mutations have been published. In the present study, we describe a Thai girl with clinically and radiologically typical CD. Direct sequencing analysis of the PCR products for the entire coding region of SOX9 revealed that she was heterozygous for a novel 448G > T in exon 2 of SOX9. The DNA change was expected to result in E150X and loss of the entire TA domain. This result further supports that SOX9 is the only gene, discovered to date, responsible for CD across different populations and that the TA domain is important to the function of the normal SOX9.

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Main Authors: Shotelersuk,Vorasuk, Jaruratanasirikul,Somchit, Sinthuwiwat,Thivaratana, Janjindamai,Waricha
Format: Digital revista
Language:English
Published: Sociedade Brasileira de Genética 2006
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400007
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spelling oai:scielo:S1415-475720060004000072006-11-21A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasiaShotelersuk,VorasukJaruratanasirikul,SomchitSinthuwiwat,ThivaratanaJanjindamai,Waricha SOX9 campomelic dysplasia mutation Campomelic dysplasia (CD) is an autosomal dominant skeletal malformation syndrome with features including bowed lower limbs with pretibial skin dimpling, hypoplastic scapulae and pelvic bones, and 11 pairs of ribs. Mutations in the SOX9 gene have been identified to cause CD. The gene encodes a transcription factor containing a dimerization, a high mobility group, and a C-terminal transactivation (TA) domain. Up to now, 35 SOX9 mutations have been published. In the present study, we describe a Thai girl with clinically and radiologically typical CD. Direct sequencing analysis of the PCR products for the entire coding region of SOX9 revealed that she was heterozygous for a novel 448G > T in exon 2 of SOX9. The DNA change was expected to result in E150X and loss of the entire TA domain. This result further supports that SOX9 is the only gene, discovered to date, responsible for CD across different populations and that the TA domain is important to the function of the normal SOX9.info:eu-repo/semantics/openAccessSociedade Brasileira de GenéticaGenetics and Molecular Biology v.29 n.4 20062006-01-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400007en10.1590/S1415-47572006000400007
institution SCIELO
collection OJS
country Brasil
countrycode BR
component Revista
access En linea
databasecode rev-scielo-br
tag revista
region America del Sur
libraryname SciELO
language English
format Digital
author Shotelersuk,Vorasuk
Jaruratanasirikul,Somchit
Sinthuwiwat,Thivaratana
Janjindamai,Waricha
spellingShingle Shotelersuk,Vorasuk
Jaruratanasirikul,Somchit
Sinthuwiwat,Thivaratana
Janjindamai,Waricha
A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasia
author_facet Shotelersuk,Vorasuk
Jaruratanasirikul,Somchit
Sinthuwiwat,Thivaratana
Janjindamai,Waricha
author_sort Shotelersuk,Vorasuk
title A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasia
title_short A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasia
title_full A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasia
title_fullStr A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasia
title_full_unstemmed A novel nonsense mutation, E150X, in the SOX9 gene underlying campomelic dysplasia
title_sort novel nonsense mutation, e150x, in the sox9 gene underlying campomelic dysplasia
description Campomelic dysplasia (CD) is an autosomal dominant skeletal malformation syndrome with features including bowed lower limbs with pretibial skin dimpling, hypoplastic scapulae and pelvic bones, and 11 pairs of ribs. Mutations in the SOX9 gene have been identified to cause CD. The gene encodes a transcription factor containing a dimerization, a high mobility group, and a C-terminal transactivation (TA) domain. Up to now, 35 SOX9 mutations have been published. In the present study, we describe a Thai girl with clinically and radiologically typical CD. Direct sequencing analysis of the PCR products for the entire coding region of SOX9 revealed that she was heterozygous for a novel 448G > T in exon 2 of SOX9. The DNA change was expected to result in E150X and loss of the entire TA domain. This result further supports that SOX9 is the only gene, discovered to date, responsible for CD across different populations and that the TA domain is important to the function of the normal SOX9.
publisher Sociedade Brasileira de Genética
publishDate 2006
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400007
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