Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1

Journal of Human Genetics

Volumn 51, Issue 8, 2006, Pages 695-700

  Guo, Xiangming ^a   Shen, Huangxuan ^a   Xiao, Xueshan ^a   Dai, Qilin ^b   Li, Shiqiang ^a   Jia, Xiaoyun ^a   Hejtmancik, J Fielding ^c   Zhang, Qingjiong ^a  

^a SUN YAT SEN UNIVERSITY   (China)

^b SUN YAT SEN UNIVERSITY   (China)

^c NATIONAL EYE INSTITUTE   (United States)

Author keywords

Cataract; Cerebellar ataxia; Mental retardation; Short stature; X linked recessive

Indexed keywords

EID: 77952881883     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0009-1     Document Type: Article

References (19)

1. Anttonen AK, Mahjneh I, Hamalainen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE (2005) The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet 37:1309-1311
2. Begeer JH, Scholte FA, van Essen AJ (1991) Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy. J Med Genet 28:884-885
3. Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, Wirth MG, Elder JE, Nicoll A, Clarke MP, FitzGerald LM, Stankovich JM, Shaw MA, Sharma S, Gajovic S, Gruss P, Ross S, Thomas P, Voss AK, Thomas T, Gecz J, Craig JE (2003) Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation. Am J Hum Genet 73:1120-1130 (Pubitemid 37414224)
4. Chelly J, Mandel JL (2001) Monogenic causes of X-linked mental retardation. Nat Rev Genet 2:669-680 (Pubitemid 33674789)
5. Derry JM, Gormally E, Means GD, Zhao W, Meindl A, Kelley RI, Boyd Y, Herman GE (1999) Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Nat Genet 22:286-290 (Pubitemid 29297257)
6. Epstein MH, Sharma J (1998) Behavioral and emotional rating scale: a strength-based approach to assessment. PRO-ED, Austin, TX
7. Fricke B, Jarvis HG, Reid CD, Aguilar-Martinez P, Robert A, Quittet P, Chetty M, Pizzey A, Cynober T, Lande WF, Mentzer WC, During M, Winter S, Delaunay J, Stewart GW (2004) Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction. Br J Haematol 125:796-803 (Pubitemid 38813607)
8. Gorlin RJ, Marashi AH, Obwegeser HL (1996) Oculo-faciocardio-dental (OFCD) syndrome. Am J Med Genet 63:290-292
9. Guo X, Li S, Jia X, Xiao X, Wang P, Zhang Q (2006) Linkage analysis of two families with X-linked recessive congenital motor nystagmus. J Hum Genet 51:76-80 (Pubitemid 43162254)
10. Lagier-Tourenne C, Chaigne D, Gong J, Flori J, Mohr M, Ruh D, Christmann D, Flament J, Mandel JL, Koenig M, Dollfus H (2002) Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco- Sjögren syndrome. J Med Genet 39:838-843 (Pubitemid 35346955)
11. Lagier-Tourenne C, Tranebaerg L, Chaigne D, Gribaa M, Dollfus H, Silvestri G, Betard C, Warter JM, Koenig M (2003) Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31. Eur J Hum Genet 11:770-778 (Pubitemid 37337060)
12. Lander E, Kruglyak L (1995) Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 11:241-247
13. Merlini L, Gooding R, Lochmuller H, Muller-Felber W, Walter MC, Angelicheva D, Talim B, Hallmayer J, Kalaydjieva L (2002) Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes. Neurology 58:231-236 (Pubitemid 34084212)
14. Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG (2004) Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. Nat Genet 36:411-416 (Pubitemid 38437266)
15. Senderek J, Krieger M, Stendel C, Bergmann C, Moser M, Breitbach-Faller N, Rudnik-Schoneborn S, Blaschek A, Wolf NI, Harting I, North K, Smith J, Muntoni F, Brockington M, Quijano-Roy S, Renault F, Herrmann R, Hendershot LM, Schroder JM, Lochmuller H, Topaloglu H, Voit T, Weis J, Ebinger F, Zerres K (2005) Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet 37:1312-1314 (Pubitemid 41722183)
16. Terwilliger JD, Ott J (1994) Handbook of human genetic linkage. Johns Hopkins University Press, Baltimore
17. Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochmuller H, Mullner-Eidenbock A, Merlini L, Neumann L, Burger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L (2003) Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet 35:185-189 (Pubitemid 37187639)
18. Wechsler D (1974) Wechsler intelligence scale for children - revised. Psychological Corporation, New York
19. Zhu F, Wu R, Hu Y (1994) Practical pediatrics, 3rd edn. People's Health Press, Beijing