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Titolo:
IDENTIFICATION OF 15 NOVEL MUTATIONS IN THE TISSUE-NONSPECIFIC ALKALINE-PHOSPHATASE (TNSALP) GENE IN EUROPEAN PATIENTS WITH SEVERE HYPOPHOSPHATASIA
Autore:
MORNET E; TAILLANDIER A; PEYRAMAURE S; KAPER F; MULLER F; BRENNER R; BUSSIERE P; FREISINGER P; GODARD J; LEMERRER M; OURY JF; PLAUCHU H; PUDDU R; RIVAL JM; SUPERTIFURGA A; TOURAINE RL; SERRE JL; SIMONBOUY B;
Indirizzi:
UNIV VERSAILLES,CTR ETUD BIOL PRENATALE,SESEP,BATIMENT FERMAT,45 AVE ETATS UNIS F-78035 VERSAILLES FRANCE LAB CYTOGENET & GENET MOL HUMAINE VERSAILLES FRANCE HOP AMBROISE PARE,BIOCHIM LAB BOULOGNE FRANCE UNIV BONN,KINDERKLIN D-5300 BONN GERMANY HOP SEVRES,SERV ECHOG SEVRES FRANCE TECH UNIV MUNICH,KINDERZENTRUM D-8000 MUNICH GERMANY HOP MANTES JOLIE PARIS FRANCE HOP NECKER ENFANTS MALAD,DEPT GENET PARIS FRANCE HOP ROBERT DEBRE F-75019 PARIS FRANCE HOP HOTEL DIEU,SERV GENET LYON FRANCE PEDIAT CLIN CAGLIARI ITALY CHU NANTES,SERV GENET F-44035 NANTES 01 FRANCE UNIV ZURICH,KINDERKLIN ZURICH SWITZERLAND HOP DEBROUSSE,SERV PEDIAT & GENET LYON FRANCE
Titolo Testata:
European journal of human genetics
fascicolo: 4, volume: 6, anno: 1998,
pagine: 308 - 314
SICI:
1018-4813(1998)6:4<308:IO1NMI>2.0.ZU;2-7
Fonte:
ISI
Lingua:
ENG
Soggetto:
INFANTILE HYPOPHOSPHATASIA; MISSENSE MUTATIONS; LETHAL FORM; DIAGNOSIS;
Keywords:
HYPOPHOSPHATASIA; ALKALINE PHOSPHATASE; MUTATIONS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
19
Recensione:
Indirizzi per estratti:
Citazione:
E. Mornet et al., "IDENTIFICATION OF 15 NOVEL MUTATIONS IN THE TISSUE-NONSPECIFIC ALKALINE-PHOSPHATASE (TNSALP) GENE IN EUROPEAN PATIENTS WITH SEVERE HYPOPHOSPHATASIA", European journal of human genetics, 6(4), 1998, pp. 308-314

Abstract

Hypophosphatasia is an inherited disorder characterised by defective bone mineralisation and deficiency of serum and tissue liver/bone/kidney alkaline phosphatase (L/B/K ALP) activity. We report the characterisation of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 13 European families affected by perinatal, infantile or childhood hypophosphatasia. Eighteen distinct mutations were found, only three of which had been reported previously in North Americanand Japanese populations. Most of the 15 new mutations were missense mutations, but we also found two mutations affecting donor splice sites and a nonsense mutation. A missense mutation in the last codon of the putative signal peptide probably affects the final maturation of theprotein. Despite extensive sequencing of the gene and its promotor region, only one mutation was identified in two cases, one of which was compatible with a possible dominant effect of certain mutations and the putative role of polymorphisms of the TNSALP gene. In 12 of the 13 tested families, genetic diagnosis was possible by characterisation of the mutations or by use of polymorphisms as genetic markers. Hypophosphatasia diagnosis was assigned in two families where clinical, laboratory and radiographic data were unclear and prenatal diagnosis was performed in one case. The results also show that severe hypophosphatasia is due to a very large spectrum of mutations in European populations with no prevalent mutation and that genetic diagnosis of the disease must be performed by extensive analysis of the gene.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/08/20 alle ore 07:06:09