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SHR Neuro Krebs Kardio Lipid

Shah, MH; Bhat, V; Shetty, JS; Kumar, A.
Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome.
Mol Vis. 2014; 20(4):790-796 (- Case Report) [OPEN ACCESS]
Web of Science PubMed PUBMED Central


Autor/innen der Med Uni Graz:
Bhat Kumble Vishwanath

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Number of Figures: 2
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Weill-Marchesani syndrome (WMS) is a rare connective tissue disorder, characterized by short stature, microspherophakic lens, and stubby hands and feet (brachydactyly). WMS is caused by mutations in the FBN1, ADAMTS10, and LTBP2 genes. Mutations in the LTBP2 and ADAMTS17 genes cause a WMS-like syndrome, in which the affected individuals show major features of WMS but do not display brachydactyly and joint stiffness. The main purpose of our study was to determine the genetic cause of WMS in an Indian family. Whole exome sequencing (WES) was used to identify the genetic cause of WMS in the family. The cosegregation of the mutation was determined with Sanger sequencing. Reverse transcription (RT)-PCR analysis was used to assess the effect of a splice-site mutation on splicing of the ADAMTS17 transcript. The WES analysis identified a homozygous novel splice-site mutation c.873+1G>T in a known WMS-like syndrome gene, ADAMTS17, in the family. RT-PCR analysis in the patient showed that exon 5 was skipped, which resulted in the deletion of 28 amino acids in the ADAMTS17 protein. The mutation in the WMS-like syndrome gene ADAMTS17 also causes WMS in an Indian family. The present study will be helpful in genetic diagnosis of this family and increases the number of mutations of this gene to six.
Find related publications in this database (using NLM MeSH Indexing)
ADAM Proteins - genetics
Adult -
Base Sequence -
Computational Biology -
Exome - genetics
Family -
Female -
Genetic Predisposition to Disease -
Homozygote -
Humans -
Humans -
Male -
Middle Aged -
Molecular Sequence Data -
Mutation - genetics
Phenotype -
RNA Splice Sites - genetics
RNA Splicing - genetics
Reproducibility of Results -
Reverse Transcriptase Polymerase Chain Reaction -
Sequence Analysis, DNA -
Weill-Marchesani Syndrome - genetics
Young Adult -

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