Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1

Barak Markus, Ginat Narkis, Daniella Landau, Ruth Z. Birk, Idan Cohen, Ohad S. Birk

Research output: Contribution to journalArticlepeer-review

Abstract

Autosomal recessive lethal congenital contractural syndrome (LCCS) is a severe form of neuromuscular arthrogryposis. We previously showed that this phenotype is caused in two unrelated inbred Bedouin tribes by different defects in the phosphatidylinositol pathway. However, the molecular basis of the same phenotype in other tribes remained elusive. Whole exome sequencing identified a novel LCCS founder mutation within a minimal shared homozygosity locus of approximately 1Mb in two affected individuals of different tribes: a homozygous premature stop producing mutation in MYBPC1, encoding myosin-binding protein C, slow type. A dominant missense mutation in MYBPC1 was previously shown to cause mild distal arthrogryposis. We now show that a recessive mutation abrogating all functional domains in the same gene leads to LCCS.

Original languageEnglish
Pages (from-to)1435-1438
Number of pages4
JournalHuman Mutation
Volume33
Issue number10
DOIs
StatePublished - 1 Oct 2012

Keywords

  • Arthrogryposis
  • Exome sequencing
  • LCCS
  • Lethal congenital contractural syndrome
  • MYBPC1

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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