X-linked Kallmann syndrome and renal agenesis occurring together and independently in a large Australian family

American Journal of Medical Genetics

Volumn 83, Issue 1, 1999, Pages 23-27

  Colquhoun Kerr, James S ^a   Gu, Wen Xia ^b   Jameson, J Larry ^b   Withers, Stephen ^a   Bode, Hans H ^a  

^a UNIVERSITY OF NEW SOUTH WALES   (Australia)

^b NORTHWESTERN UNIVERSITY   (United States)

Author keywords

Hereditary renal adysplasia; KAL 1 gene; Kallmann syndrome; Renal agenesis

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHILD; ECTOPIC KIDNEY; GENE MUTATION; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME; KIDNEY AGENESIS; MALE; MULTIGENE FAMILY; PEDIGREE; PRIORITY JOURNAL; PROTEIN SYNTHESIS REGULATION; X CHROMOSOME LINKAGE;

CODON, NONSENSE; FEMALE; FRAMESHIFT MUTATION; HUMANS; KALLMANN SYNDROME; KIDNEY; LINKAGE (GENETICS); MALE; PEDIGREE; SEQUENCE ANALYSIS, DNA; X CHROMOSOME;

EID: 0033525624     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990305)83:1<23::AID-AJMG6>3.0.CO;2-O     Document Type: Article

References (25)

1. Ballabio A, Zoghbi HY. 1995. Kallmann syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill. p 4549-4557.
2. Bouloux PM, Hardelin JP, Munroe P, Kirk JM, Legouis R, Levilliers J, Hazan J, Weissenbach J, Petit C. 1991. A dinucleotide repeat polymorphism at the Kallmann locus (Xp22.3). Nucleic Acids Res 19:5453.
3. Buchta RM, Viseskul C, Gilbert EF, Sarto G, Opitz JM. 1973. Familial bilateral renal agenesis and hereditary renal adysplasia. Z Kinderheilkd 115:111-129.
4. Carter CO, Evans K, Pescia G. 1979. A family study of renal agenesis. J Med Genet 16:176-188.
5. Duke VM, Winyard PJD, Thorogood P, Soothill P, Bouloux PMG, Woolf AS. 1995. KAL, a gene mutated in Kallmann's syndrome, is expressed in the first trimester of human development. Mol Cell Endocrinol 110:73-79.
6. Franco B, Guioli 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.
7. Georgopoulos NA, Pralong FP, Seidman JG, Crowley WF Jr, Vallejo M. 1997. Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency. J Clin Endocrinol Metab 82:213-217.
8. Gu W-X, Colquhoun-Kerr JS, Kopp P, Bode HH, Jameson JL. 1998. A novel aminoterminal mutation in the KAL-1 gene in a large pedigree with X-linked Kallmann syndrome. Mol Genet Metab 65:59-61.
9. Hardelin J, Levilliers J, Del Castillo I, Cohen-Salmon M, Legouis R, Blanchard S, Compain S, Bouloux P, Kirk J, Moraine C, Chaussain J, Weissenbach J, Petit C. 1992. X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene. Proc Natl Acad Sci USA 89:8190-8194.
10. Hardelin J, Levilliers J, Blanchard S, Carel J, Leutenegger M, Pinard-Bertelletto J, Bouloux P, Petit C. 1993a. Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. Hum Mol Genet 2:373-377.
11. Hardelin J, Levilliers J, Young J, Pholsena M, Legouis R, Kirk J, Bouloux P, Petit C, Schaison G. 1993b. Xp22.3 deletions in isolated familial Kallmann's syndrome. J Clin Endocrinol Metab 76:827-831.
12. Hardelin J, Petit C. 1995. A molecular approach to the pathophysiology of the X chromosome-linked Kallmann's syndrome. In: Thakker RV, editor. Genetic and molecular biological aspects of endocrine disease. London: Balliere Tindall 9:489-507.
13. Kallmann FJ, Schoenfeld WA, Barrera SE. 1944. The genetic aspects of primary eunuchoidism. Am J Ment Defic 48:203-236.
14. Kanjilal D, Basir MA, Verma RS, Rajegowda BK, Lala R, Nagaraj A. 1992. New dysmorphic features in Rubenstein-Taybi syndrome. J Med Genet 29:669-670.
15. Kirk JMW, Grant DB, Besser GM, Shalet S, Quinton R, Smith CS, White M, Edwards O, Bouloux PG. 1994. Unilateral renal aplasia in X-linked Kallmann's syndrome. Clin Genet 46:260-262.
16. Kotlar TJ, Young RH, Albanese C, Crowley WF Jr, Jameson JL. 1997. A mutation in the follicle-stimulating hormone receptor occurs frequently in human ovarian sex cord tumors. J Clin Endocrinol Metab 82:1020-1026.
17. Legouis R, Hardelin J, Levilliers J, Claverie J, Compain S, Wunderie 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 X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 67:423-435.
18. Lutz B, Rugarli EI, Eichele G, Ballabio A. 1993. X-linked Kallmann syndrome. A neuronal targeting defect in the olfactory system? FEBS Lett 325:128-134.
19. McKusick VA. 1990. Mendelian inheritance in man. 9th ed. Baltimore: Johns Hopkins University Press, p 958-960.
20. Mcpherson E, Carey J, Kramer A, Hall JG, Pauli RM, Schimke RN, Tasin MH. 1987. Dominantly inherited renal adysplasia. Am J Med Genet 26:863-872.
21. Opitz JM. 1987. Vaginal atresia (von Mayer-Rokitansky-Kuster or MRK anomaly) in hereditary renal adysplasia (HRA). Am J Med Genet 26: 873-876.
22. Roodhooft AM, Birnholtz JC, Holmes LB. 1984. Familial nature of congenital absence and severe dysgenesis of both kidneys. N Engl J Med 310:1341-1345.
23. Rugarli EI, Ballabio A. 1993. Kallmann syndrome: From genetics to neurobiology. JAMA 270:2713-2718.
24. Waldstreicher J, Seminara SB, Jameson JL, Geyer A, Nachtigall LB, Boepple PA, Holmes LB, Crowley WF Jr. 1996. The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human. J Clin Endocrinol Metab 81:4388-4395.
25. Wegenke JD, Uehling DT, Wear JB, Gordon ES, Bargman JG, Deacon JSR, Herrmann JPR, Opitz JM. 1976. Familial Kallmann syndrome with unilateral renal aplasia. Clin Genet 7:368-381.