Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth

American Journal of Medical Genetics, Part A

Volumn 140, Issue 16, 2006, Pages 1785-1788

  Fares, Fuad ^a,c   David, Miriam ^a   Lerner, Aaron ^a   Diukman, Roni ^a   Lerer, Israela ^b   Abeliovich, Dvorah ^b   Rivlin, Joseph ^a  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c CARMEL MEDICAL CENTER   (Israel)

Author keywords

Cystic fibrosis; Genomic imprinting; Overgrowth; Paternal UPD7

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 7; CYSTIC FIBROSIS; DEVELOPMENTAL DISORDER; GENETIC COUNSELING; GENETIC SCREENING; GENOME IMPRINTING; HOMOZYGOSITY; HUMAN; MALE; OBESITY; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TISSUE SPECIFICITY; UNIPARENTAL DISOMY;

BODY WEIGHT; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 7; CYSTIC FIBROSIS; FATHERS; GENETIC MARKERS; GENOMIC IMPRINTING; GROWTH DISORDERS; HUMANS; MALE; POLYMORPHISM, GENETIC; UNIPARENTAL DISOMY;

EID: 33746633347     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31380     Document Type: Article

References (16)

1. Abeliovich D, Lavon IP, Lerer I, Cohen T, Springer C, Avital A. Cutting GR. 1992. Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet 51:951-956.
2. Beechey CV. 2000. Peg1/Mest locates distal to the currently defined imprinting region on mouse proximal chromosome 6 and identifies a new imprinting region affecting growth. Cytogenet Cell Genet 90:309-314.
3. Blagitko N, Mergenthaler S, Schulz U, Wollmann HA, Craigen W, Eggermann T, Ropers HH, Kalscheuer VM. 2000. Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion. Hum Mol Genet 9:1587-1595.
4. Cattanach BM, Shibata H, Hayashizaki Y, Townsend KM, Ball S, Beechey CV. 1998. Association of a redefined proximal mouse chromosome 11 imprinting region and U2afbp-rs/U2af1-rs1 expression. Cytogenet Cell Genet 80:41-47.
5. Eggermann T, Wollmann HA, Kuner R, Eggermann K, Enders H, Kaiser P, Ranke MB. 1997. Molecular studies in 37 Silver-Russell syndrome patients: Frequency and etiology of uniparental disomy. Hum Genet 100:415-419.
6. Hoglund P, Holmberg C, de la Chapelle A, Kere J. 1994. Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. Am J Hum Genet 55:747-752.
7. Ioffe E, Moon B, Connolly E, Friedman JM. 1998. Abnormal regulation of the leptin gene in the pathogenesis of obesity. Proc Natl Acad Sci USA 95:11852-11857.
8. Isse N, Ogawa Y, Tamura N, Masuzaki H, Mori K, Okazaki T, Satoh N, Shigemoto M, Yoshimasa Y, Nishi S, Hosoda K, Inazawa J, Nakao K. 1995. Structural organization and chromosomal assignment of the human obese gene. J Biol Chem 270:27728-27733.
9. Kobayashi S, Kohda T, Miyoshi N, Kuroiwa Y, Aisaka K, Tsutsumi O, Kaneko-Ishino T, Ishino F. 1997. Human PEG1/MEST, an imprinted gene on chromosome 7. Hum Mol Genet 6:781-786.
10. Kotzot D. 1999. Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15. Am J Med Genet 82:265-274.
11. Kotzot D, Balmer D, Baumer A, Chrzanowska K, Hamel BC, Ilyina H, Krajewska-Walasek M, Lurie IW, Otten BJ, Schoenle E, Tariverdian G, Schinzel A. 2000. Maternal uniparental disomy 7-review and further delineation of the phenotype. Eur J Pediatr 159:247-256.
12. Morrione A, Valentinis B, Resnicoff M, Xu S, Baserga R. 1997. The role of mGrb10alpha in insulin-like growth factor I-mediated growth. J Biol Chem 272:20382-20387.
13. Moutoussamy S, Renaudie F, Lago F, Kelly PA, Finidori J. 1998. Grb10 identified as a potential regulator of growth hormone (GH) signaling by cloning of GH receptor target proteins. J Biol Chem 273:15906-15912.
14. Ono R, Kobayashi S, Wagatsuma H, Aisaka K, Kohda T, Kaneko-Ishino T, Ishino F. 2001. A retrotransposon-derived gene, PEG10, is a novel imprinted gene located on human chromosome 7q21. Genomics 73:232-237.
15. Pan Y, McCaskill CD, Harrisom GM, Hicks J, Casey B, Shaffer LG, Craigen WJ. 1996. Paternal uniparental disomy of chromosome 7 associated with complete situs inversus and immotile cilia. Am J Hum Genet 59:547.
16. Yoshihashi H, Maeyama K, Kosaki R, Ogata T, Tsukahara M, Goto Y, Hata J, Matsuo N, Smith RJ, Kosaki K. 2000. Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome. Am J Hum Genet 67:476-482.