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Titolo:
Perinatal hypophosphatasia: Radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene
Autore:
Sergi, C; Mornet, E; Troeger, J; Voigtlaender, T;
Indirizzi:
Univ Heidelberg, Inst Pathol, Paido Pathol Labor, D-69120 Heidelberg, Germany Univ Heidelberg Heidelberg Germany D-69120 , D-69120 Heidelberg, Germany Univ Versailles, SESEP, Ctr Etud Biol Prenatale, F-78000 Versailles, France Univ Versailles Versailles France F-78000 le, F-78000 Versailles, France Univ Heidelberg, Abt Padiatr Radiol, D-69120 Heidelberg, Germany Univ Heidelberg Heidelberg Germany D-69120 , D-69120 Heidelberg, Germany Univ Heidelberg, Inst Humangenet, Genet Poliklin, D-69120 Heidelberg, Germany Univ Heidelberg Heidelberg Germany D-69120 , D-69120 Heidelberg, Germany
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 3, volume: 103, anno: 2001,
pagine: 235 - 240
SICI:
0148-7299(20011015)103:3<235:PHRPAM>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
INFANTILE HYPOPHOSPHATASIA; PRENATAL-DIAGNOSIS;
Keywords:
bone dysplasia; mineralization; DNA sequencing; 3D model;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
21
Recensione:
Indirizzi per estratti:
Indirizzo: Sergi, C Univ Heidelberg, Inst Pathol, Paido Pathol Labor, Neuenheimer Feld 220-221, D-69120 Heidelberg, Germany Univ Heidelberg Neuenheimer Feld 220-221 Heidelberg Germany D-69120
Citazione:
C. Sergi et al., "Perinatal hypophosphatasia: Radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene", AM J MED G, 103(3), 2001, pp. 235-240

Abstract

We report on a postmortem diagnosis of perinatal lethal hypophosphatasia, an inborn error of metabolism characterized by a liver/bone/kidney alkalinephosphatase (ALP)-related defective bone mineralization due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Radiological and pathological studies identified a perinatal lethal hypophosphatasia showing a generalized bone mineralization defect including asymmetry of the cervical vertebral arches in a 22 +4 weeks' gestation fetus. Both parents revealed low serum ALP activities supporting the diagnosis. Sequencing analysisof the TNSALP gene showed two heterozygous mutations, 648+1A, a mutation affecting the donor splice site in exon 6, and N400S, a novel missense mutation in exon 11, located near the active site and very close to histidins 364 and 437, two crucial residues of the active site. Sequencing of exons 6 and 11 in the parents showed that 648+1A was from maternal origin and N400S from paternal origin. DNA-based prenatal testing in the subsequent pregnancy following a chorionic villous sampling performed at 10 weeks of gestationshowed no mutation and a healthy infant was born at term. (C) 2001 Wiley-Liss, Inc.

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Documento generato il 28/09/20 alle ore 15:29:26