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Titolo:
Retinopathy of prematurity: Mutations in the Norrie disease gene and the risk of progression to advanced stages
Autore:
Haider, MZ; Devarajan, LV; Al-Essa, M; Srivastva, BS; Kumar, H; Azad, R; Rashwan, N;
Indirizzi:
Kuwait Univ, Fac Med, Dept Pediat, Safat 13110, Kuwait Kuwait Univ SafatKuwait 13110 Fac Med, Dept Pediat, Safat 13110, Kuwait
Titolo Testata:
PEDIATRICS INTERNATIONAL
fascicolo: 2, volume: 43, anno: 2001,
pagine: 120 - 123
SICI:
1328-8067(200104)43:2<120:ROPMIT>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
MISSENSE MUTATIONS; EXUDATIVE VITREORETINOPATHY; CANDIDATE GENE; IDENTIFICATION;
Keywords:
missense mutation; Norrie disease gene; polymerase chain reaction; retinopathy of prematurity;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
14
Recensione:
Indirizzi per estratti:
Indirizzo: Haider, MZ Kuwait Univ, Fac Med, Dept Pediat, POB 24923, Safat 13110, Kuwait Kuwait Univ POB 24923 Safat Kuwait 13110 , Safat 13110, Kuwait
Citazione:
M.Z. Haider et al., "Retinopathy of prematurity: Mutations in the Norrie disease gene and the risk of progression to advanced stages", PEDIATR INT, 43(2), 2001, pp. 120-123

Abstract

Background: Retinopathy of prematurity (ROP) is a. retinal vascular disease that occurs in infants with short gestational age and low birth weight and may lead to retinal detachment and blindness. Missense mutations in the Norrie disease (ND) gene have been associated with the risk of progression to advanced stages in cases of ROP from the US and also in clinically similar ND and familial exudative vitreoretinopathy. Methods: We have screened two ND gene mutations, namely A105T and Val60Glu, by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and allele-specific PCR methods. respectively, in 210 Kuwaiti premature newborns to replicate these findings in a different ethnic group. Results: In the Kuwaiti premature newborn cohort, 115 of 210 babies had noeye problems and sen ed as controls, while 95 were cases of ROP. In 71 of 95 ROP cases, the disease regressed spontaneously on or before stage 3, while in 24 of 95 ROP cases the disease progressed to advanced stages 4 and 5. In case of missense mutation (A105T), the AA genotype was detected in 96% of controls compared with 87% of ROP cases (NS); similarly no significant difference was found between spontaneously regressed ROP cases and those whoprogressed to advanced stages. For the Val60Glu mutation, no significant association was detected between the genotype and progression of ROP to advanced stages. Conclusions: Unlike data from the US, our findings from a Kuwaiti cohort of ROP cases and controls suggest a lack of association between the two ND gene mutations (A105T and Val60Glu) and ROP and the risk of progression of the disease to advanced stages.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 14/07/20 alle ore 06:59:10