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http://purl.uniprot.org/citations/24940034http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/24940034http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/24940034http://www.w3.org/2000/01/rdf-schema#comment"

Purpose

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.

Methods

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.

Results

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.

Conclusions

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."xsd:string
http://purl.uniprot.org/citations/24940034http://purl.uniprot.org/core/author"Kumar A."xsd:string
http://purl.uniprot.org/citations/24940034http://purl.uniprot.org/core/author"Kumar A."xsd:string
http://purl.uniprot.org/citations/24940034http://purl.uniprot.org/core/author"Bhat V."xsd:string
http://purl.uniprot.org/citations/24940034http://purl.uniprot.org/core/author"Bhat V."xsd:string
http://purl.uniprot.org/citations/24940034http://purl.uniprot.org/core/author"Shah M.H."xsd:string
http://purl.uniprot.org/citations/24940034http://purl.uniprot.org/core/author"Shah M.H."xsd:string
http://purl.uniprot.org/citations/24940034http://purl.uniprot.org/core/author"Shetty J.S."xsd:string
http://purl.uniprot.org/citations/24940034http://purl.uniprot.org/core/author"Shetty J.S."xsd:string
http://purl.uniprot.org/citations/24940034http://purl.uniprot.org/core/date"2014"xsd:gYear
http://purl.uniprot.org/citations/24940034http://purl.uniprot.org/core/date"2014"xsd:gYear
http://purl.uniprot.org/citations/24940034http://purl.uniprot.org/core/name"Mol. Vis."xsd:string
http://purl.uniprot.org/citations/24940034http://purl.uniprot.org/core/name"Mol. Vis."xsd:string
http://purl.uniprot.org/citations/24940034http://purl.uniprot.org/core/pages"790-796"xsd:string
http://purl.uniprot.org/citations/24940034http://purl.uniprot.org/core/pages"790-796"xsd:string
http://purl.uniprot.org/citations/24940034http://purl.uniprot.org/core/title"Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome."xsd:string
http://purl.uniprot.org/citations/24940034http://purl.uniprot.org/core/title"Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome."xsd:string
http://purl.uniprot.org/citations/24940034http://purl.uniprot.org/core/volume"20"xsd:string
http://purl.uniprot.org/citations/24940034http://purl.uniprot.org/core/volume"20"xsd:string
http://purl.uniprot.org/citations/24940034http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/24940034
http://purl.uniprot.org/citations/24940034http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/24940034
http://purl.uniprot.org/citations/24940034http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/24940034
http://purl.uniprot.org/citations/24940034http://xmlns.com/foaf/0.1/primaryTopicOfhttps://pubmed.ncbi.nlm.nih.gov/24940034
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