A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

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Bicknell L. S., Farrington-Rock C., Shafeghati Y., Rump P., ALANAY Y., Alembik Y., ...More

JOURNAL OF MEDICAL GENETICS, vol.44, no.2, pp.89-98, 2007 (SCI-Expanded, Scopus)

• Publication Type: Article / Article
• Volume: 44 Issue: 2
• Publication Date: 2007
• Doi Number: 10.1136/jmg.2006.043687
• Journal Name: JOURNAL OF MEDICAL GENETICS
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.89-98
• Open Archive Collection: AVESIS Open Access Collection
• Hacettepe University Affiliated: No

Abstract

Background: Larsen syndrome is an autosomal dominant osteochondrodysplasia characterised by large-joint dislocations and craniofacial anomalies. Recently, Larsen syndrome was shown to be caused by missense mutations or small inframe deletions in FLNB, encoding the cytoskeletal protein filamin B. To further delineate the molecular causes of Larsen syndrome, 20 probands with Larsen syndrome together with their affected relatives were evaluated for mutations in FLNB and their phenotypes studied.