Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita

Clinical Genetics

Volumn 90, Issue 1, 2016, Pages 84-89

  Ekhilevitch, N ^a   Kurolap, A ^a   Oz Levi, D ^a   Mory, A ^a   Hershkovitz, T ^a   Ast, G ^b   Mandel, H ^c,d   Baris, H N ^a,d  

^a Rambam Health Care Campus   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c Metabolic Bone Diseases Unit   (Israel)

^d TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

arthrogryposis multiplex congenita; contractures; exome sequencing; MYBPC1

Indexed keywords

GENOMIC DNA;

ADOLESCENT; ARTHROGRYPOSIS; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; CLINICAL FEATURE; CONSANGUINITY; DNA SEQUENCE; DRUZE; EXON; FEMALE; GENE; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; ISRAELI; JOINT CONTRACTURE; MALE; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MUSCLE CONTRACTION; MYBPC1 GENE; NONSENSE MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 84973642075     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12707     Document Type: Article

References (25)

1. Haliloglu G, Topaloglu H. Arthrogryposis and fetal hypomobility syndrome. Handb Clin Neurol 2013: 113: 1311–1319.
2. Hall JG. Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles. Eur J Med Genet 2014: 57: 464–472.
3. Bamshad M, Van Heest AE, Pleasure D. Arthrogryposis: a review and update. J Bone Joint Surg Am 2009: 91 (Suppl 4): 40–46.
4. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009: 25: 1754–1760.
5. DePristo MA, Banks E, Poplin R et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 2011: 43: 491–498.
6. Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010: 38: e164.
7. Sherry ST, Ward MH, Kholodov M et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 2001: 29: 308–311.
8. 1000 Genomes Project Consortium. An integrated map of genetic variation from 1,092 human genomes. Nature 2012: 491: 56–65.
9. Stelzer G, Dalah I, Stein TI et al. In-silico human genomics with GeneCards. Hum Genomics 2011: 5: 709–717.
10. Hu J, Ng PC. SIFT Indel: predictions for the functional effects of amino acid insertions/deletions in proteins. PLoS One 2013: 8: e77940.
11. Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010: 7: 575–576.
12. Adzhubei IA, Schmidt S, Peshkin L et al. A method and server for predicting damaging missense mutations. Nat Methods 2010: 7: 248–249.
13. Reese MG, Eeckman FH, Kulp D, Haussler D. Improved splice site detection in Genie. J Comput Biol 1997: 4: 311–323.
14. Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 2009: 37: e67.
15. Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR. ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res 2003: 31: 3568–3571.
16. Gurnett CA, Desruisseau DM, McCall K et al. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum Mol Genet 2010: 19: 1165–1173.
17. Li X, Zhong B, Han W et al. Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2. PLoS One 2015: 10: e0117158.
18. Markus B, Narkis G, Landau D, Birk RZ, Cohen I, Birk OS. Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. Hum Mutat 2012: 33: 1435–1438.
19. Ha K, Buchan JG, Alvarado DM et al. MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis. Hum Mol Genet 2013: 22: 4967–4977.
20. Ackermann MA, Patel PD, Valenti J et al. Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow. FASEB J 2013: 27: 3217–3228.
21. Ackermann MA, Kontrogianni-Konstantopoulos A. Myosin binding protein-C: a regulator of actomyosin interaction in striated muscle. J Biomed Biotechnol 2011: 1–9.
22. Sorek R, Lev-Maor G, Reznik M et al. Minimal conditions for exonization of intronic sequences: 5' splice site formation in alu exons. Mol Cell 2004: 14: 221–231.
23. Schwartz S, Gal-Mark N, Kfir N, Oren R, Kim E, Ast G. Alu exonization events reveal features required for precise recognition of exons by the splicing machinery. PLoS Comput Biol 2009: 5: e1000300.
24. Lev-Maor G, Ram O, Kim E et al. Intronic Alus influence alternative splicing. PLoS Genet 2008: 4: e1000204.
25. Ackermann MA, Ward CW, Gurnett C, Kontrogianni-Konstantopoulos A. Myosin binding protein-C slow phosphorylation is altered in Duchenne dystrophy and arthrogryposis myopathy in fast-twitch skeletal muscles. Sci Rep 2015: 5: 13235 DOI: 10.1038/srep13235.