The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: Quadricuspid aortic valve and other midline defects

American Journal of Medical Genetics, Part A

Volumn 149, Issue 12, 2009, Pages 2803-2808

  Chen, Wuyan ^a   Kim, Mimi S ^b   Shanbhag, Sujata ^c   Arai, Andrew ^c   VanRyzin, Carol ^b   McDonnell, Nazli B ^a   Merke, Deborah P ^b,d  

^a NATIONAL INSTITUTE ON AGING   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^d EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

Aortic valve; CAH; Congenital adrenal hyperplasia; Contiguous deletion syndrome; CYP21A2; EDS; Ehlers Danlos syndrome; Hypermobility; Tenascin X; TNX; TNXB

Indexed keywords

CYTOCHROME P450 1A2; TENASCIN; TENASCIN XB; UNCLASSIFIED DRUG;

ALLELE; AORTA VALVE DISEASE; ARTICLE; CASE REPORT; CHILD; CONGENITAL ADRENAL HYPERPLASIA; ECHOCARDIOGRAPHY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENOME; HETEROZYGOSITY; HUMAN; JOINT HYPERMOBILITY; MITRAL VALVE PROLAPSE; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SOLITARY KIDNEY; SOUTHERN BLOTTING; TONGUE DISEASE; UTERUS BICORNIS;

ADULT; AORTIC VALVE; BLOTTING, SOUTHERN; CHILD; FEMALE; GENE DELETION; GENOME, HUMAN; HAPLOTYPES; HEART VALVE DISEASES; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; STEROID 21-HYDROXYLASE; TENASCIN;

EID: 71949119171     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33092     Document Type: Article

References (26)

1. Armen TA, Vandse R, Bickle K, Nathan N. 2008. Three-dimensional echocardiographic evaluation of an incidental quadricuspid aortic valve. Eur J Echocardiogr 9:318-320. (Pubitemid 351665193)
2. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. 1998. Ehlers-Danlos syndromes: Revised nosology, Villefranche,1997. Ehlers- Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 77:31-37.
3. Bristow J, Carey W, Egging D, Schalkwijk J. 2005. Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome. Am J Med Genet Part C 139C:24-30. (Pubitemid 41739244)
4. Burch GH, Bedolli MA, McDonough S, Rosenthal SM, Bristow J. 1995. Embryonic expression of tenascin-X suggests a role in limb, muscle, and heart development. Dev Dyn 203:491-504.
5. Burch GH, Gong Y, Liu W, Dettman RW, Curry CJ, Smith L, Miller WL, Bristow J. 1997. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. Nat Genet 17:104-108. (Pubitemid 27377542)
6. Chung EK, Wu YL, Yang Y, Zhou B, Yu CY. 2005. Human complement components C4A and C4B genetic diversities: Complex genotypes and phenotypes. In: Coligan JE, Bierer B, Margulies DH, Shevach EM, Strober W, Coico R, editors. Curr protoc immunol. New Jersey: John Wiley and Sons. pp. 13.8.1-13.8.36.
7. Dotti MT, De Stefano N, Mondillo S, Agricola E, Federico A. 1999. Neurological involvement and quadricuspid aortic valve in a patient with Ehlers-Danlos syndrome. J Neurol 246:612-613. (Pubitemid 29376291)
8. Feldman BJ, Khandheria BK, Warnes CA, Seward JB, Taylor CL, Tajik AJ. 1990. Incidence, description and functional assessment of isolated quadricuspid aortic valves. Am J Cardiol 65:937-938.
9. Holt NF, Sivarajan M, Mandapati D, Printsev Y, Elefteriades JA. 2007. Quadricuspid aortic valve with aortic insufficiency: Case report and review of the literature. J Card Surg 22:235-237. (Pubitemid 46683956)
10. Koppens PF, Hoogenboezem T, Degenhart HJ. 2002. Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions. Hum Mol Genet 11:2581-2590. (Pubitemid 35174688)
11. Krone N, Braun A, Weinert S, PeterM,Roscher AA, Partsch CJ, SippellWG. 2002. Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia. Clin Chem 48: 818-825.
12. Lindor NM, Bristow J. 2005. Tenascin-X deficiency in autosomal recessive Ehlers-Danlos syndrome. Am J Med Genet Part A 135A: 75-80. (Pubitemid 40627669)
13. Maeda T, Suzuki Y, Haeno S, Asada M, Hiramatsu R, Tanaka F, Okada M, Suzuki T. 1996. Ehlers-Danlos syndrome and congenital heart anomalies. Intern Med 35:200-202. (Pubitemid 126462526)
14. Matsumoto K, Saga Y, Ikemura T, Sakakura T, Chiquet-Ehrismann R. 1994. The distribution of tenascin-X is distinct and often reciprocal to that of tenascin-C. J Cell Biol 125:483-493. (Pubitemid 24135960)
15. McDonnell NB, Gorman BL, Mandel KW, Schurman SH, Assanah-Carroll A, Mayer SA, Najjar SS, Francomano CA. 2006. Echocardiographic findings in classical and hypermobile Ehlers-Danlos syndromes. Am J Med Genet Part A 140A:129-136. (Pubitemid 43054014)
16. Merke DP, Bornstein SR. 2005. Congenital adrenal hyperplasia. Lancet 365:2125-2136.
17. Morel Y, Bristow J, Gitelman SE, Miller WL. 1989. Transcript encoded on the opposite strand of the human steroid 21-hydroxylase/ complement component C4 gene locus. Proc Natl Acad Sci USA 86: 6582-6586. (Pubitemid 19236321)
18. Nabhan ZM, Eugster EA. 2007. Upper-tract genitourinary malformations in girls with congenital adrenal hyperplasia. Pediatrics 120:e304-e307.
19. Okamura H, Matsumoto Y. 1984. A case of Ehlers-Danlos syndrome associated with cleft lip and palate. J Laryngol Otol 98:311-315. (Pubitemid 14156043)
20. Peeters AC, Kucharekova M, Timmermans J, van den Berkmortel FW, Boers GH, Novakova IR, Egging D, den Heijer M, Schalkwijk J. 2004. A clinical and cardiovascular survey of Ehlers-Danlos syndrome patients with complete deficiency of tenascin-X. Neth J Med 62:160-162. (Pubitemid 39089499)
21. Rizzo R, Contri MB, Micali G, Quaglino D, Pavone L, Ronchetti IP. 1987. Familial Ehlers-Danlos syndrome type II: Abnormal fibrillogenesis of dermal collagen. Pediatr Dermatol 4:197-204.
22. Schalkwijk J, Zweers MC, Steijlen PM, Dean WB, Taylor G, van Vlijmen IM, van Haren B, Miller WL, Bristow J. 2001. A recessive form of the Ehlers- Danlos syndrome caused by tenascin-X deficiency. N Engl J Med 345: 1167-1175. (Pubitemid 34940761)
23. Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH. 2004. Rare autosomal recessive cardiac valvular form of Ehlers- Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. Am J Hum Genet 74:917-930. (Pubitemid 38568965)
24. Voermans NC, Jenniskens GJ, Hamel BC, Schalkwijk J, Guicheney P, van Engelen BG. 2007. Ehlers-Danlos syndrome due to tenascin-X deficiency: Muscle weakness and contractures support overlap with collagen VI myopathies. Am J Med Genet Part A 143A:2215-2219.
25. Yang Z, Mendoza AR, Welch TR, Zipf WB, Yu CY. 1999. Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21- hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease associations. J Biol Chem 274: 12147-12156. (Pubitemid 129518481)
26. Zweers MC, Bristow J, Steijlen PM, Dean WB, Hamel BC, Otero M, Kucharekova M, Boezeman JB, Schalkwijk J. 2003. Haploinsufficiency of TNXB is associated with hypermobility type of Ehlers-Danlos syndrome. Am J Hum Genet 73:214-217. (Pubitemid 36793794)