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Titolo:
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation
Autore:
Malandrini, A; Mari, F; Palmeri, S; Gambelli, S; Berti, G; Bruttini, M; Bardelli, AM; Williamson, K; van Heyningen, V; Renieri, A;
Indirizzi:
Univ Siena, Policlin Le Scotte, Inst Neurol Sci, I-53100 Siena, Italy UnivSiena Siena Italy I-53100 te, Inst Neurol Sci, I-53100 Siena, Italy Univ Siena, Inst Ophthalmol, I-53100 Siena, Italy Univ Siena Siena ItalyI-53100 na, Inst Ophthalmol, I-53100 Siena, Italy Western Gen Hosp, MRC, Human Genet Unit, Edinburgh EH4 2XU, Midlothian, Scotland Western Gen Hosp Edinburgh Midlothian Scotland EH4 2XU dlothian, Scotland
Titolo Testata:
CLINICAL GENETICS
fascicolo: 2, volume: 60, anno: 2001,
pagine: 151 - 154
SICI:
0009-9163(200108)60:2<151:PMIAFW>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Soggetto:
GENE; DELETIONS; DISORDER; REGION;
Keywords:
aniridia; mental retardation; PAX6; pleiotropism; ptosis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
23
Recensione:
Indirizzi per estratti:
Indirizzo: Renieri, A Univ Siena, Policlin Le Scotte, Inst Neurol Sci, Viale Bracci 2, I-53100 Siena, Italy Univ Siena Viale Bracci 2 Siena Italy I-53100 100 Siena, Italy
Citazione:
A. Malandrini et al., "PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation", CLIN GENET, 60(2), 2001, pp. 151-154

Abstract

Congenital aniridia is due to deletions and point mutations in the PAX6 gene. We describe here a case of a mother and her two sons with a syndrome comprising congenital aniridia, ptosis, and slight mental retardation. The sons also show behavioral changes. The possibility of deletion around the PAX6 locus was excluded by polymorphism studies and fluorescence in situ hybridization analysis. Mutation screening of the PAX6 gene revealed the presence of a transversion C719A, resulting in the substitution of arginine for serine at residue 119. We suggest that this missense mutation is responsible both for aniridia and ptosis, and possibly also for the observed cognitive dysfunction in this family.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 09/07/20 alle ore 20:59:20