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

Human Mutation

Volumn 33, Issue 10, 2012, Pages 1435-1438

  Markus, Barak ^a   Narkis, Ginat ^a   Landau, Daniella ^a,b   Birk, Ruth Z ^c   Cohen, Idan ^a   Birk, Ohad S ^a,b  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^c ARIEL UNIVERSITY   (Israel)

Author keywords

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

Indexed keywords

MYOSIN BINDING PROTEIN C;

ARAB; ARTHROGRYPOSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONSANGUINITY; CONTROLLED STUDY; DNA MICROARRAY; EXOME; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HAPLOTYPE; HOMOZYGOSITY; HUMAN; INFORMED CONSENT; ISRAEL; LETHAL CONGENITAL CONTRACTURAL SYNDROME TYPE 4; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE;

ARTHROGRYPOSIS; BASE SEQUENCE; CARRIER PROTEINS; GENES, LETHAL; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE;

EID: 84866299419     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22122     Document Type: Article

References (15)

1. Bamshad M, Jorde LB, Carey JC. 1996. A revised and extended classification of the distal arthrogryposes. Am J Med Genet 65:277-281.
2. Chen Z, Zhao TJ, Li J, Gao YS, Meng FG, Yan YB, Zhou HM. 2011. Slow skeletal muscle myosin-binding protein-C (MyBPC1) mediates recruitment of muscle-type creatine kinase (CK) to myosin. Biochem J 436:437-445.
3. Cohen D, Bar-Yosef U, Levy J, Gradstein L, Belfair N, Ofir R, Joshua S, Lifshitz T, Carmi R, Birk OS. 2007. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci 48:2208-2213.
4. Feinstein M, Markus B, Noyman I, Shalev H, Flusser H, Shelef I, Liani-Leibson K, Shorer Z, Cohen I, Khateeb S, Sivan S, Birk OS. 2010. Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. Am J Hum Genet 87:820-828.
5. Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, et al. 2010. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum Mol Genet 19:1165-1173.
6. Harel T, Rabinowitz R, Hendler N, Galil A, Flusser H, Chemke J, Gradstein L, Lifshitz T, Ofir R, Elbedour K, Birk OS. 2005. COL11A2 mutation associated with autosomal recessive Weissenbacher-Zweymuller syndrome: molecular and clinical overlap with otospondylomegaepiphyseal dysplasia (OSMED). Am J Med Genet A 132A:33-35.
7. Leutenegger AL, Prum B, Genin E, Verny C, Lemainque A, Clerget-Darpoux F, Thompson EA. 2003. Estimation of the inbreeding coefficient through use of genomic data. Am J Hum Genet 73:516-523.
8. Markus B, Birk OS, Geiger D. 2011. Integration of SNP genotyping confidence scores in IBD inference. Bioinformatics 27:2880-2887.
9. Narkis G, Landau D, Manor E, Ofir R, Birk OS. 2007a. Genetics of arthrogryposis: linkage analysis approach. Clin Orthop Relat Res 456:30-35.
10. Narkis G, Ofir R, Landau D, Manor E, Volokita M, Hershkowitz R, Elbedour K, Birk OS. 2007b. Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. Am J Hum Genet 81:530-539.
11. Narkis G, Ofir R, Manor E, Landau D, Elbedour K, Birk OS. 2007c. Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/Akt pathway. Am J Hum Genet 81:589-595.
12. Nousiainen HO, Kestila M, Pakkasjarvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L. 2008. Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. Nat Genet 40:155-157.
13. Pakkasjarvi N, Ritvanen A, Herva R, Peltonen L, Kestila M, Ignatius J. 2006. Lethal congenital contracture syndrome (LCCS) and other lethal arthrogryposes in Finland-an epidemiological study. Am J Med Genet A 140A:1834-1839.
14. Vuopala K, Leisti J, Herva R. 1994. Lethal arthrogryposis in Finland-a clinico-pathological study of 83 cases during thirteen years. Neuropediatrics 25:308-315.
15. Weber FE, Vaughan KT, Reinach FC, Fischman DA. 1993. Complete sequence of human fast-type and slow-type muscle myosin-binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment. Eur J Biochem 216:661-669.