Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation

Clinical Genetics

Volumn 54, Issue 1, 1998, Pages 45-51

  Weissortel R ^a   Strom, T M ^b   Dorr H G ^a   Rauch, A ^a   Meitinger, T ^b  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b Department of Pediatric Genetics ^*  (Germany)

Author keywords

Contiguous gene syndrome; Kallmann syndrome; X linked ichthyosis; Xp22.3 deletion

Indexed keywords

DNA; LIPOPROTEIN; STERYL SULFATASE;

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME XP; ELECTROPHORESIS; GENE DELETION; GENE MAPPING; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; ICHTHYOSIS; KALLMANN SYNDROME; LEUKOCYTE; MALE; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; OLFACTORY TRACT; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

EID: 0031902705     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1998.tb03692.x     Document Type: Article

References (38)

1. Ballabio A, Andria G. Deletions and translocations involving the distal short arm of the human X chromosome: review and hypotheses. Hum Mol Genet 1992: 1: 221-227.
2. Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AAB, Lewis RA, Ballabio A. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X-chromosome. Nat Genet 1995: 10: 13-19.
3. Meindl A, Hosenfeld D, Bruckl W, Schuffenhauer S, Jenderny J, Bacskulin A, Oppermann HC, Swensson O, Bouloux P, Meitinger T. Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism. J Med Genet 1993: 30: 838-842.
4. Prager D, Braunstein GD. X-chromosome-linked Kallmann's syndrome: pathology at the molecular level. J Clin Endocrinol Metab 1993: 76: 824-826.
5. Schwanzel-Fukuda M, Pfaff DW. Origin of luteinizing hormone-releasing hormone neurons. Nature 1989: 338: 161-164.
6. Schinzel A, Lorda-Sanchez I, Binkert F, Carter NP, Bebb CE, Ferguson-Smith MA, Eiholzer U, Zachmann M, Robinson WP. Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting. J Med Genet 1995: 32: 957-961.
7. Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carozzo R, Maestrini E, Pieretti M, Taillon-Miller P, Brown CJ, Willard HF, Lawrence C, Persico MG Camerino G, Ballabio A. A gene deleted in Kallmann syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 1991: 353: 529-536.
8. 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. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 1991: 67: 423-435.
9. Bonifas JM, Morley BJ, Oakey RE, Kan YW, Epstein EH Jr. Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis. Proc Natl Acad Sci 1987: 84: 9248-9251.
10. Crowe MA, James WD. X-linked ichthyosis. J Am Med Assoc 1993: 270: 2265-2266.
11. Shapiro LJ, Weiss R, Webster D, France JT. X-linked ichthyosis due to steroid-sulphatase deficiency. Lancet 1978: 1: 70-72.
12. Shapiro LJ, Weiss R, Buxman MM, Vidgoff J, Dimond RL. Enzymatic basis of typical X-linked ichthyosis. Lancet 1978: 2: 756-757.
13. Yen PH, Allen E, Marsh B, Mohandas T, Wang N, Taggart RT, Shapiro LJ. Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange. Cell 1987: 49: 443-454.
14. Shapiro LJ, Yen P, Pomerantz D, Martin E, Rolewic L, Mohandas T. Molecular studies of deletions at the human steroid sulfatase locus. Proc Natl Acad Sci 1989: 86: 8477-8481.
15. 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. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci USA 1989: 86: 10001-10005.
16. Glass IA. X linked mental retardation. J Med Genet 1991: 28: 361-371.
17. Herrell S, Novo FJ, Charlton R, Affara NA. Development and physical analysis of YAC contigs covering 7 Mb of Xp22.3-p22.2. Genomics 1995: 25: 526-537.
18. Paige DG, Emilion GG, Bouloux PMG, Harper JI. A clinical and genetic study of X-linked recessive ichthyosis and contiguous gene defects. Br J Dermatol 1994: 131: 622-629.
19. Reinken L, Van Oost G. Longitudinale Körperentwicklung gesunder Kinder von 0 bis 18 Jahren. Klin Pädiatr 1992: 204: 129-133.
20. Greulich WW, Pyle SI. Radiographic Atlas of Skeletal Development of the Hand and Wrist. Stanford: Stanford University Press, 1959.
21. Nelson DL, Ballabio A, Cremers F, Monaco AP, Schlessinger D. Report of the sixth international workshop on X chromosome mapping 1995. Cytogenet Cell Genet 1995: 71: 307-342.
22. Hardelin JP, Levilliers J, Young J, Pholsena M, Legouis R, Kirk J, Bouloux P, Petit C, Schaison G. Xp22.3 deletions in isolated familial Kallmann's syndrome. J Clin Endocrinol Metab 1993: 76: 827-831.
23. Kalimann FJ, Schoenfeld WA, Barrera SE. The genetic aspects of primary eunuchoidism. Am J Ment Defic 1944: 48: 203-236.
24. Ballabio A, Camerino G. The gene for X-linked Kallmann syndrome: a human neuronal migration defect. Curr Opin Genet Dev 1992: 2: 417-421.
25. Schwanzel-Fukuda M, Jorgenson KL, Bergen HT, Weesner GD, Pfaff DW. Biology of normal luteinizing hormone-releasing hormone neurons during and after their migration from olfactory placode. Endocr Rev 1992: 13: 623-634.
26. Tiepolo L, Zuffardi O, Fraccaro M, Di Natale D, Gargantini L, Müller DR, Ropers HH. Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. Hum Genet 1980: 54: 205-206.
27. Ballabio A, Parenti G, Tippett P, Mondello C, Di Maio S, Tenore A, Andria G. X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome. Hum Genet 1986: 72: 237-240.
28. Schmickel RD. Contiguous gene syndromes: a component of recognizable syndromes. J Pediatr 1986: 109: 231-241.
29. Klingmüller D, Dewes W, Krahe T, Brecht G, Schweikert HU. Magnetic resonance imaging of the brain in patients with anosmia and hypothalamic hypogonadism (Kallmann's syndrome). J Clin Endocrinol Metab 1987: 65: 581-584.
30. Vogl TJ, Stemmler J, Heye B, Schopohl J, Danek A, Bergman C, Balzer JO, Felix R. Kallmann syndrome versus idiopathic hypogonadotropic hypogonadism at MR imaging. Radiology 1994: 191: 53-57.
31. Lykkesfeldt G, Nielsen MD, Lykkesfeldt AE. Placental steroid sulfatase deficiency: biochemical diagnosis and clinical review. Obstet Gynecol 1984: 64: 49-54.
32. Klink A, Meindl A, Hellebrand H, Rappold GA. A patient with an interstitial deletion in Xp22.3 locates the gene for X-linked recessive chondrodysplasia punctata to within a one megabase interval. Hum Genet 1994: 93: 463-466.
33. Yen PH, Ferrero GB, Chinault AC, Mohandas T, Ballabio A. Characterization of the deletion breakpoints in a patient with steroid sulfatase deficiency. Human Mutation 1994: 4: 76-78.
34. Salido EC, Yen PH, Koprivnikar K, Yu LC, Shapiro LJ. The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. Am J Hum Genet 1992: 50: 303-316.
35. Lykkesfeldt G, Bennett P, Lykkesfeldt AE, Micic S, Rorth M, Skakkebaek NE, Svenstrup B. Testis Cancer. Cancer 1991: 67: 730-734.
36. Bouloux PMG, Duke V, Quinton R. Congenital pituitary endocrine failure. In: Shaw RW. ed. Hypothalamic Pituitary Dysfunction. Lancs-New York: Parthenon, 1994: 17-33.
37. Duke VM, Winyard PJ, Thorogood P, Soothill P, Bouloux PM, Woolf AS, KAL, a gene mutated in Kallmann's syndrome, is expressed in the first trimester of human development. Mol Cell Endocrinol 1995: 110: 73-79.
38. Bick DP, Schorderet DF, Price PA, Campbell L, Huff RW, Shapiro LJ, Moore CM. Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata. ichthyosis, and Kallmann syndrome due to an Xp deletion. Prenat Diagn 1992: 12: 19-29.