Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum Pathophysiology of musculoskeletal disorders

BMC Musculoskeletal Disorders

Volumn 17, Issue 1, 2016, Pages

  Kariminejad, Ariana ^a   Ghaderi Sohi, Siavash ^a   Hossein Nejad Nedai, Hamid ^b   Varasteh, Vahid ^b   Moslemi, Ali Reza ^c   Tajsharghi, Homa ^c,d,e  

^a Kariminejad and Najmabadi Pathology and Genetics Center   (Iran)

^b SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

^d UNIVERSITY OF GOTHENBURG   (Sweden)

^e UNIVERSITY OF SKÖVDE   (Sweden)

Author keywords

Akinesia; Arthrogryposis; Cystic hygroma; Foetal hydrops; Lethal multiple pterygium syndrome; Ryanodine receptor 1; RYR1

Indexed keywords

RYANODINE RECEPTOR 1; RYANODINE RECEPTOR;

AKINESIA; ARTHROGRYPOSIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; CYSTIC LYMPHANGIOMA; DISEASE SEVERITY; EXCITATION CONTRACTION COUPLING; EXOME; FEMALE; FETUS; FETUS HYDROPS; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; LETHAL MULTIPLE PTERYGIUM SYNDROME; MULTIPLE MALFORMATION SYNDROME; MUSCLE CONTRACTION; MYOPATHY; PTERYGIUM; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; ABNORMALITIES, MULTIPLE; FETUS DEATH; GENETICS; MALIGNANT HYPERTHERMIA; MUTATION; PATHOLOGY; SKIN ABNORMALITIES;

ABNORMALITIES, MULTIPLE; FEMALE; FETAL DEATH; FETUS; HUMANS; MALIGNANT HYPERTHERMIA; MUTATION; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SKIN ABNORMALITIES;

EID: 84959363680     PISSN: None     EISSN: 14712474     Source Type: Journal    
DOI: 10.1186/s12891-016-0947-5     Document Type: Article

References (21)

1. Hall JG. The lethal multiple pterygium syndromes. Am J Med Genet. 1984;17(4):803-7.
2. Chen H, Immken L, Lachman R, Yang S, Rimoin DL, Rightmire D, Eteson D, Stewart F, Beemer FA, Opitz JM et al. Syndrome of multiple pterygia, camptodactyly, facial anomalies, hypoplastic lungs and heart, cystic hygroma, and skeletal anomalies: delineation of a new entity and review of lethal forms of multiple pterygium syndrome. Am J Med Genet. 1984;17(4):809-26.
3. Vogt J, Harrison BJ, Spearman H, Cossins J, Vermeer S, ten Cate LN, Morgan NV, Beeson D, Maher ER. Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. Am J Hum Genet. 2008;82(1):222-7.
4. Froster UG, Stallmach T, Wisser J, Hebisch G, Robbiani MB, Huch R, Huch A. Lethal multiple pterygium syndrome: suggestion for a consistent pathological workup and review of reported cases. Am J Med Genet. 1997;68(1):82-5.
5. Moessinger AC. Fetal akinesia deformation sequence: an animal model. Pediatrics. 1983;72(6):857-63.
6. Ravenscroft G, Sollis E, Charles AK, North KN, Baynam G, Laing NG. Fetal akinesia: review of the genetics of the neuromuscular causes. J Med Genet. 2011;48(12):793-801.
7. Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N et al. Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am J Hum Genet. 2008;82(2):464-76.
8. Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, Aligianis IA, van Bokhoven H, Marton T, Al-Gazali L et al. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet. 2006;79(2):390-5.
9. Vogt J, Morgan NV, Marton T, Maxwell S, Harrison BJ, Beeson D, Maher ER. Germline mutation in DOK7 associated with fetal akinesia deformation sequence. J Med Genet. 2009;46(5):338-40.
10. Wilbe M, Ekvall S, Eurenius K, Ericson K, Casar-Borota O, Klar J, Dahl N, Ameur A, Anneren G, Bondeson ML. MuSK: a new target for lethal fetal akinesia deformation sequence (FADS). J Med Genet. 2015;52(3):195-202.
11. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25(14):1754-60.
12. Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R. The sequence alignment/Map format and SAMtools. Bioinformatics. 2009;25(16):2078-9.
13. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M et al. The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297-303.
14. Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38(16):e164.
15. Fredfeldt KE, Holm HH, Pedersen JF. Three-dimensional ultrasonic scanning. Acta Radiol Diagn (Stockh). 1984;25(3):237-41.
16. McKie AB, Al-Saedi A, Vogt J, Stuurman KE, Weiss MM, Shakeel H, Tee L, Morgan NV, Nikkels PG, van Haaften G et al. Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. Acta Neuropathol Commun. 2014;2(1):148.
17. Ellard S, Kivuva E, Turnpenny P, Stals K, Johnson M, Xie W, Caswell R, Lango Allen H. An exome sequencing strategy to diagnose lethal autosomal recessive disorders. Eur J Hum Genet. 2015;23(3):401-4.
18. Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, Fardeau M, Lunardi J. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. Hum Mol Genet. 2000;9(18):2599-608.
19. Fujii J, Otsu K, Zorzato F, de Leon S, Khanna VK, Weiler JE, O'Brien PJ, MacLennan DH. Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. Science. 1991;253(5018):448-51.
20. Romero NB, Monnier N, Viollet L, Cortey A, Chevallay M, Leroy JP, Lunardi J, Fardeau M. Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. Brain. 2003;126(Pt 11):2341-9.
21. Robinson LK, O'Brien NC, Puckett MC, Cox MA. Multiple pterygium syndrome: a case complicated by malignant hyperthermia. Clin Genet. 1987;32(1):5-9.