5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects

European Journal of Medical Genetics

Volumn 54, Issue 3, 2011, Pages 354-356

  Nakamura, Eiki ^a   Makita, Yoshio ^a   Okamoto, Toshio ^a   Nagaya, Ken ^a   Hayashi, Tokitsugi ^a   Sugimoto, Masaya ^a   Manabe, Hiromi ^a   Taketazu, Genya ^a   Kajino, Hiroki ^a   Fujieda, Kenji ^a  

^a ASAHIKAWA MEDICAL COLLEGE   (Japan)

Author keywords

15q terminal deletion; Congenital heart defect; Developmental delay; Intrauterine growth retardation; NR2F2; Postnatal growth retardation

Indexed keywords

NUCLEAR RECEPTOR NR2C2;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 15Q; CHROMOSOME DELETION; CONGENITAL HEART MALFORMATION; FEMALE; GENETIC ANALYSIS; HUMAN;

CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 15; COMPARATIVE GENOMIC HYBRIDIZATION; COUP TRANSCRIPTION FACTOR II; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; KARYOTYPING;

EID: 79955480909     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.12.004     Document Type: Article

References (14)

1. Baker J., Liu J.P., Robertson E.J., Efstratiadis A. Role of insulin-like growth factors in embryonic and postnatal growth. Cell 1993, 75:73-82.
2. Davidsson J., Collin A., Björkhem G., Soller M. Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay. BMC. Med. Genet. 2008, 9:2.
3. Ester W.A., van Duyvenvoorde H.A., de Wit C.C., Broekman A.J., Ruivenkamp C.A.L., Govaerts L.C.P., Wit J.M., Hokken-Koelega A.C.S., Losekoot M. Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype. J. Clin. Endocrinol. Metab. 2009, 94:4717-4727.
4. Gruber P.J., Epstein J.A. Development gone awry. Congenital heart disease. Circ. Res. 2004, 94:273-283.
5. Inagaki K., Tiulpakov A., Rubtsov P., Sverdlova P., Peterkova V., Yakar S., Terekhov S., LeRoith D. A familial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization. J. Clin. Endocrinol. Metab. 2007, 92:1542-1548.
6. Liu J.P., Baker J., Perkins A.S., Robertson E.J., Efstratiadis A. Mice carrying null mutations of the genes encoding insulin-like growth factor 1 (Igf-1) and type 1 IGF receptor (Igf1r). Cell 1993, 75:59-72.
7. Pereira F.A., Qiu Y., Zhou G., Tsai M.J., Tsai S.Y. The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development. Gene. Dev. 1999, 13:1037-1049.
8. Pinson L., Perrin A., Plouzennec C., Parent P., Metz C., Collet M., Le Bris M.J., Douet-Guilbert N., Morel F., De Braekeleer M. Detection of an unexpected subtelomeric 15q26.2-qter deletion in a little girl: clinical and cytogenetic studies. Am. J. Med.Genet. A 2005, 138:160-165. A.
9. Poot M., Eleveld M.J., van't Slot R., van Genderen M.M., Verrijn Stuart A.A., Hochstenbach R., Beemer F.A. Proportional growth failure and oculocutaneous albinism in a girl with a 6.87 Mb deletion of region 15q26.2-qter. Eur. J. Med. Genet. 2007, 50:432-440.
10. Rujirabanjerd S., Suwannarat W., Sripo T., Dissaneevate P., Permsirivanich W., Limprasert P. De novo subtelomeric deletion of 15q associated with satellite translocation in a child with developmental delay and severe growth retardation. Am. J. Med. Genet. A 2007, 143:271-276. A.
11. Rump P., Dijkhuizen T., Sikkema-Raddatz B., Lemmink H.H., Vos Y.J., Verheij J.B.G.M., van Ravenswaaij C.M.A. Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-qter). Clin. Genet. 2008, 74:455-462.
12. Russo V.C., Gluckman P.D., Feldman E.L., Werther G.A. The insulin-like growth factor system and its pleiotropic functions in brain. Endocr. Rev. 2005, 26:916-943.
13. Walenkamp M.J.E., Karperien M., Pereira A.M., Hilhorst-Hofstee Y., van Doorn J., Chen J.W., Mohan S., Denley A., Forbes B., van Duyvenvoorde H.A., van Thiel S.W., Sluimers C.A., Bax J.J., de Laat J.A.P.M., Breuning M.B., Romijn J.A., Wit J.M. Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation. J. Clin. Endocrinol. Metab. 2005, 90:2855-2864.
14. Walenkamp M.J.E., de Muinck Keizer-Schrama S.M.P.F., de Mos M., Kalf M.E., van Duyvenvoorde H.A., Boot A.M., Kant S.G., White S.J., Losekoot M., Den Dunnen J.T., Karperien M., Wit J.M. Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-1 receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification. J. Clin. Endocrinol. Metab. 2008, 93:2421-2425.