Genotype-phenotype relationships in Freeman-Sheldon syndrome

American Journal of Medical Genetics, Part A

Volumn 164, Issue 11, 2014, Pages 2808-2813

  Beck, Anita E ^a,b   Mcmillin, Margaret J ^a,b   Gildersleeve, Heidi I S ^a   Shively, Kathryn M B ^a   Tang, Andy ^a   Bamshad, Michael J ^a,b,c  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b SEATTLE CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Arthrogryposis; Clubfoot; Congenital foot deformities; Congenital hand deformities; Congenital limb deformities; Congenital lower extremity deformities; Congenital upper extremity deformities; Contracture; Distal arthrogryposis; Distal arthrogryposis type 2A; Human MYH3 polypeptide; Muscle; Musculoskeletal abnormalities; Myosin heavy chains; Skeletal muscle

Indexed keywords

MYOSIN HEAVY CHAIN; CYTOSKELETON PROTEIN; MYH3 POLYPEPTIDE, HUMAN;

ARTHROGRYPOSIS; ARTICLE; CHILD; CLINICAL ARTICLE; CONTRACTURE; DISEASE SEVERITY; FREEMAN SHELDON SYNDROME; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; MUTATIONAL ANALYSIS; MYH3 GENE; PRIORITY JOURNAL; SCOLIOSIS; SCORING SYSTEM; ADOLESCENT; CRANIOFACIAL DYSOSTOSIS; DIAGNOSTIC IMAGING; DNA MUTATIONAL ANALYSIS; EXON; FACIES; FEMALE; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; MALE; MUTATION; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; RADIOGRAPHY; SPINE;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL DYSOSTOSIS; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; EXONS; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; RADIOGRAPHY; SPINE;

EID: 84910668302     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36762     Document Type: Article

References (24)

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. Beals RK. 2005. The distal arthrogryposes: A new classification of peripheral contractures. Clin Orthop Relat Res 203-210.
3. Beck AE, McMillin MJ, Gildersleeve HI, Kezele PR, Shively KM, Carey JC, Regnier M, Bamshad MJ. 2013. Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. Amer J Med Genet 161:550-555.
4. Freeman EA, Sheldon JH. 1938. Cranio-carpo-tarsal dystrophy. Arch Dis Child 13:277-283.
5. Hall JG. 2014. Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. Eur J Med Genet
6. Hall JG, Reed SD, Greene G. 1982. The distal arthrogryposes: Delineation of new entities-review and nosologic discussion. Am J Med Genet 11:185-239.
7. Jiang M, Zhao X, Han W, Bian C, Li X, Wang G, Ao Y, Li Y, Yi D, Zhe Y, Lo WH, Zhang X, Li J. 2006. A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. Hum Genet 120:238-242.
8. Kimber E, Tajsharghi H, Kroksmark AK, Oldfors A, Tulinius M. 2006. A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis. Neurology 67:597-601.
9. Kimber E, Tajsharghi H, Kroksmark AK, Oldfors A, Tulinius M. 2012. Distal arthrogryposis: Clinical and genetic findings. Acta Paediatr 101:877-887.
10. Ko JM, Choi IH, Baek GH, Kim KW. 2013. First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome. J Korean Med Sci 28:780-783.
11. Krakowiak PA, Bohnsack JF, Carey JC, Bamshad M. 1998. Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B). Am J Med Genet 76:93-98.
12. Li X, Jiang M, Han W, Zhao N, Liu W, Sui Y, Lu Y, Li J. 2013. A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures. Gene 527:630-635.
13. Minzer-Conzetti K, Wu E, Vargervik K, Slavotinek A. 2008. Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation. Clin Dysmorphol 17:1-4.
14. Shrimpton AE, Hoo JJ. 2006. A TNNI2 mutation in a family with distal arthrogryposis type 2B. Eur J Med Genet 49:201-206.
15. Stevenson DA, Carey JC, Palumbos J, Rutherford A, Dolcourt J, Bamshad MJ. 2006. Clinical characteristics and natural history of Freeman-Sheldon syndrome. Pediatrics 117:754-762.
16. Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M. 2003a. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet 72:681-690.
17. Sung SS, Brassington AM, Krakowiak PA, Carey JC, Jorde LB, Bamshad M. 2003b. Mutations in TNNT3 cause multiple congenital contractures: A second locus for distal arthrogryposis type 2B. Am J Hum Genet 73:212-214.
18. Tajsharghi H, Kimber E, Holmgren D, Tulinius M, Oldfors A. 2007. Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. Neurology 68:772-775.
19. Tajsharghi H, Kimber E, Kroksmark AK, Jerre R, Tulinius M, Oldfors A. 2008. Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally. Arch Neurol 65:1083-1090.
20. Toydemir RM, Bamshad MJ. 2009. Sheldon-Hall syndrome. Orphanet J Rare Dis 4:11.
21. Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ. 2006a. Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. Am J Med Genet A 140:2387-2393.
22. Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. 2006b. Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet 38:561-565.
23. Veugelers M, Bressan M, McDermott DA, Weremowicz S, Morton CC, Mabry CC, Lefaivre JF, Zunamon A, Destree A, Chaudron JM, Basson CT. 2004. Mutation of perinatal myosin heavy chain associated with a carney complex variant. N Engl J Med 351:460-469.
24. Zhao N, Jiang M, Han W, Bian C, Li X, Huang F, Kong Q, Li J. 2011. A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus. Eur J Med Genet 54:351-353.