Mental Retardation in a Boy with an Interstitial Deletion at Xp22.3 Involving STS, KALI, and OA1: Implication for the MRX Locus

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 64, Issue 4, 1996, Pages 583-587

  Muroya, Koji ^a   Ogata, Tsutomu ^a   Matsuo, Nobutake ^a   Nagai, Toshiro ^b   Franco, Brunella ^e   Ballabio, Andrea ^e   Rappold, Gudrun ^f   Sakura, Nobuo ^c   Fukushima, Yoshimitsu ^d  

^a KEIO UNIVERSITY   (Japan)

^b Tokyo Metropol Kiyose Children's H ^*  (Japan)

^c HIROSHIMA UNIV SCHOOL OF MEDICINE   (Japan)

^d SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^f UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Gene locus; Interstitial deletion; Mental retardation; X chromosome; X inactivation

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME XP; GENE LOCUS; GENOTYPE; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MALE; MENTAL DEFICIENCY; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

EYE PROTEINS; GENE DELETION; GENOTYPE; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MENTAL RETARDATION; PEDIGREE; PHENOTYPE; X CHROMOSOME;

EID: 0029792936     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960906)64:4<583::AID-AJMG11>3.0.CO;2-D     Document Type: Article

References (31)

1. Aynsley-Green A, Zachmann M, Prader A (1976): Interrelation of the therapeutic effects of growth hormone and testosterone on growth in hypopituitalism. J Pediatr 89:992-999.
2. Ballabio A, Parenti G, Carrozzo R, Sebastio G, Andria G, Buckle V, Fraser N, Craig I, Rocchi M, Romeo G, Jobsis AC, Persico MG (1987): Isolation and characterization of a steroid sulfatase cDNA clone : Genomic deletions in patients with X-chromosome-linked ichtyosis. Proc Natl Acad Sci USA 84:4519-4523.
3. Ballabio A, Bardoni B, Carrozzo R, Andria G, Bick D, Campbell L, Hamel B, Ferguson-Smith MA, Gimelli G, Fraccaro M, Maraschio P, Zuffardi O, Guioli S, Camerino G (1989): Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci USA 86:10001-10005.
4. Ballabio A, Andria G (1992): Deletions and translocations involving the distal short arm of the human X chromosome: Review and hypotheses. Hum Mol Genet 1:221-227.
5. Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AAB, Lewis RA, Ballabio A (1995): Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nature Genet 10:13-19.
6. Bonifas JM, Morley BJ, Oakey RE, Kan YW, Epstein EH Jr. (1987): Cloning of a cDNA for steroid sulfatase: Frequent occurrence of gene deletions in patients with recessive X chromosome-linked icthyosis. Proc Natl Acad Sci USA 84:9248-9251.
7. Conary JT, Lorkowski G, Schmidt B, Pohlmann R, Nagel G, Meyer HE, Krentler C, Cully J, Hasilik A, Von Figura K (1987): Genetic heterogenity of steroid sulfatase deficiency revealed with cDNA for human steroid sulfatase deficiency. Biochem Biophys Res Commun 144:1010-1017.
8. Ferrero GB, Franco B, Roth EJ, Firulli BA, Borsani G, Delmas-Mata J, Weissenbach J, Halley G, Schlessinger D, Chinault AC, Zoghbi HY, Nelson DL, Ballabio A (1995): An integrated physical and genetic map of a 35 Mb region on chromosome Xp22.3-Xp21.3. Hum Mol Genet 4:1821-1827.
9. Franco B, Gulioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P, Brown CJ, Willard HF, Lawrence C, Persico MG, Camerino G, Ballabio A (1991): A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 353:529-536.
10. Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA, Andria G, Petit C, Ballabio A (1995): A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Cell 81:15-25.
11. Gilbert EF, Opitz JM. (1982): Developmental and other pathologic changes in syndromes caused by chromosome abnormalities. Perspect Pediatr Pathol 7:1-63.
12. Herrell S, Novo FJ, Charlton R, Affara NA (1995): Development and physical analysis of YAC contigs covering 7 Mb of Xp22.3-p22.2. Genomics 25:526-537.
13. Hofker MH, Wapenaar MC, Goor N, Bakker E, van Ommen GJ, Pearson PL (1985): Isolation of probes detecting restriction fragment length polymorphisms from X chromosome specific libralies: Potential use for diagnosis of Duchenne muscular dystrophy. Hum Genet 70:148-156.
14. Ikeuchi T (1984): Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding. Cytogenet Cell Genet 38:56-61.
15. Klink A, Schiebel K, Winkelmann M, Rao E, Horsthemke B, Lüdecke HJ, Claussen U, Scherer G, Rappold G (1995): The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability. Hum Mol Genet 4:869-878.
16. Lang GE, Rott HD, Pfeiffer RA (1990): X-linked ocular albinism. Characteristic pattern of affection in female carriers. Ophthalmic Paediatr Genet 11:265-271.
17. Lau YF, Kan YW (1984): Direct isolation of the functional human thymidine kinase gene with a cosmid shuttle vector. Proc Natl Acad Sci USA 81:414-418.
18. Lee WC, Salido E, Yen PH (1994): Isolation of a new gene GS2 (DXS1283E) from a CpG island between STS and KAL1 on Xp22.3. Genomics 22:372-376.
19. Legouis R, Hardelin JP, Levilliers J, Claverie JM, Compain S, Wunderle V, Millasseau P, Le Paslier D, Cohen D, Caterina D, Bougueleret L, Delemarre-Van de Waal H, Lutfalla G, Weissenbach J, Petit C (1991): The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 67:423-435.
20. Middlesworth W, Bertelson C, Kunkel LM (1985): An RFLP detecting single copy X-chromosome fragment, dic56, from Xp22-Xpter. Nucleic Acids Res 13:5723.
21. Mondello C, Ropers HH, Craig IW, Tolley E, Goodfellow PN (1987): Physical mapping of genes and sequences at the end of the human X chromosome short arm. Ann Hum Genet 51:137-143.
22. Ogata T, Petit C, Rappold G, Matsuo N, Matsumoto T, Goodfellow P (1992): Chromosomal localisation of a pseudoautosomal growth gene(s). J Med Genet 29:624-628.
23. Ohsaki M, Matsumoto T, Sakura N, Ueda K (1993): Enzymatic diagnosis of steroid sulfatase deficiency by high performance liquid chromatography. Clin Chim Acta 215:165-171.
24. Ropers HH, Migl B, Zimer J, Fraccaro M, Maraschio PP, Westerveld A (1981): Activity of steroid sulfatase in fibroblasts with numerial and structural X chromosome aberrations. Hum Genet 57:354-356.
25. Ross MT, Ballabio A, Craig IW (1990): Long-range physical mapping around the human steroid sulfatase locus. Genomics 6:528-539.
26. Schaefer L, Ferrero GB, Grillo A, Bassi MT, Roth EJ, Wapenaar MC, van Ommen GJB, Mohandas TK, Rocchi M, Zoghbi HY, Ballabio A (1993): A high resolution deletion map of human chromosome Xp22. Nature Genet 4:272-279.
27. Schiaffino MV, Bassi MT, Rugarli EI, Renieri A, Galli L, Ballabio A (1995): Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. Hum Mol Genet 4:373-382.
28. Sunohara N, Sakuragawa N, Satoyoshi E, Tanae A, Shapiro LJ (1986): A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C. Ann Neurol 19:174-181.
29. van Slegtenhorst MA, Bassi MT, Borsani G, Wapenaar MC, Ferrero GB, de Concilliis L, Rugarli EI, Grillo A, Franco B, Zoghbi HY, Ballabio A (1994): A gene from the Xp22.3 region shares homology with voltage-gated chloride channels. Hum Mol Genet 3: 547-552.
30. Yen PH, Allen E, Marsh B, Mohandas T, Wang N, Taggart RT, Shapiro LJ (1987): Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: Implications for X-Y interchange. Cell 49:443-454.
31. Yen PH, Ellison J, Salido EC, Mohandas T, Shapiro L (1992): Isolation of a new gene from the distal short arm of the human X chromosome that escapes X-inactivation. Hum Mol Genet 1:47-52.