CALL gene is haploinsufficient in a 3p- syndrome patient

American Journal of Medical Genetics

Volumn 86, Issue 5, 1999, Pages 482-485

  Angeloni, Debora ^a   Lindor, Noralane M ^b   Pack, Svetlana ^c   Latif, Farida ^a   Wei, Ming Hui ^a   Lerman, Michael I ^a  

^a NATIONAL CANCER INSTITUTE   (United States)

^b MAYO CLINIC   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

Author keywords

3p syndrome; CALL; IQ

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 3P; CHROMOSOME DELETION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENETIC VARIABILITY; HUMAN; MALE; MENTAL DISEASE; MULTIPLE MALFORMATION SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SYNDROME;

CHILD; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 3; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; LEUKOCYTE L1 ANTIGEN COMPLEX; MALE; MEMBRANE GLYCOPROTEINS; MENTAL RETARDATION; NEURAL CELL ADHESION MOLECULES; PEDIGREE; SYNDROME; TRANSLOCATION, GENETIC;

EID: 0033615674     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19991029)86:5<482::AID-AJMG15>3.0.CO;2-L     Document Type: Article

References (17)

1. Asai M, Ito Y, Iguchi T, Ito J, Okada N, Oishi H. 1992. Terminal deletion of the short arm of chromosome 3. Jpn J Hum Genet 37:163-168.
2. Bateman A, Jouet M, MacFarlane J, Du JS, Kenwrick S, Chothia C. 1996. Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders. EMBO J 15:6050-6059.
3. Cook DL, Gerber AN, Tapscott SJ. 1998. Modeling stochastic gene expression: Implications for haploinsufficiency. Proc Natl Acad Sci USA 95: 15641-15646.
4. Dallapiccola B, Mingarelli R, Novelli G. 1995. The link between cytogenetics and mendelism. Biomed Pharmacother 49:83-93.
5. Drumheller T, McGillivray BC, Behrner D, MacLeod P, McFadden DE, Roberson J, Venditti C, Chorney K, Chorney M, Smith DI. 1996. Precise localisation of 3p25 breakpoints in four patients with the 3p- syndrome. J Med Genet 33:842-847.
6. Fransen E, Van Comp G, Vits L, Willems PJ. 1997. L1-associated diseases: Clinical geneticists divide, molecular geneticists unite. Hum Mol Genet 6:1625-1632.
7. Latif F, Duh FM, Gnarra J, Tory K, Kuzmin I, Yao M, Stackhouse T, Modi W, Geil L, Schmidt L, Li H, Orcutt ML, Maher E, Richards F, Phipps M, Ferguson-Smith M, Le Paslier D, Linehan WM Zbar B, Lerman MI. 1993a. Von Hippel-Lindau syndrome: Cloning and identification of the plasma membrane Ca(++)-transporting ATPase isoform 2 gene that resides in the Von Hippel-Lindau gene region. Cancer Res 53:861-867.
8. Latif F, Tory K, Gnarra J, Yao M, Duh FM, Orcutt ML, Stackhouse T, Kuzmin I, Modi W, Geil L, Schmidt L, Zhou F, Li H, Wei MH, Chen F, Glenn G, Choyke P, Walther MCM, Weng Y, Duan DSR, Dean M, Glavac D, Richards F, Crossey PA, Refguson-Smith MA, Le Paslier D, Chumakov I, Cohen D, Chinault C, Maher ER, Linehan WM, Zbar B, Lerman MI. 1993b. Identification of the Von Hippel-Lindau disease tumor suppressor gene. Science 260:1317-1320.
9. Mowrey PN, Chorney MJ, Venditti CP, Latif F, Modi WS, Lerman MI, Zbar B, Robins DB, Rogan PK, Ladda RL. 1993. Clinical and molecular analyses of deletion 3p25-pter syndrome. Am J Med Genet 46:623-629.
10. Narahara K, Kikkawa K, Murakami M, Hiramoto K, Namba H, Tsuji K, Yokoyama Y, Kimoto H. 1990. Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: Karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3. Am J Med Genet 35:269-273.
11. Nienhaus H, Mau U, Zang KD. 1992. Infant with del(3) (p25-pter): Karyotype-phenotype correlation and review of previously reported cases. Am J Med Genet 44:573-575.
12. Pack SD, Tanigami A, Ledbetter DH, Sato T, Fukuda MN. 1997. Assignment of trophoblast/endometrial epithelium cell adhesion molecule trophinin gene TRO to human chromosome bands Xp11.22→p11.21 by in situ hybridization. Cytogenet Cell Genet 79:123-124.
13. Phipps ME, Latif F, Prowse A, Payne SJ, Dietz-Band J, Leversha M, Affara NA, Moore AT, Tolmie J, Schinzel A, Lerman MI, Ferguson-Smith MA, Maher ER. 1994. Molecular genetic analysis of the 3p- syndrome. Hum Mol Genet 3:903-908.
14. Thorogood P, editor. 1997. Embryos, genes and birth defects. New York: Wiley.
15. Tory K, Latif F, Modi W, Schmidt L, Wei MH, Li H, Cobler P, Orcutt ML, Delisio J, Geil L, Zbar B, Lerman MI. 1992. A genetic linkage map of 96 loci on the short arm of human chromosome 3. Genomics 13:275-286.
16. Verjaal M, De Nef MB. 1978. A patient with a partial deletion of the short arm of chromosome 3. Am J Dis Child 132:43-45.
17. Wei MH, Karavanova I, Ivanov SV, Popescu NC, Keck CL, Pack S, Eisen JA, Lerman MI. 1998. In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules. Hum Genet 103:355-364.