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Titolo:
Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family
Autore:
Gehring, B; Mornet, E; Plath, H; Hansmann, M; Bartmann, P; Brenner, RE;
Indirizzi:
Univ Ulm, Dept Orthopaed, Div Biochem Joint & Connect Tissue Dis, D-89081 Ulm, Germany Univ Ulm Ulm Germany D-89081 & Connect Tissue Dis, D-89081 Ulm, Germany Univ Bonn, Dept Neonatol, D-5300 Bonn, Germany Univ Bonn Bonn Germany D-5300 Bonn, Dept Neonatol, D-5300 Bonn, Germany Univ Versailles, Ctr Etud Biol Prenatale, SESEP, F-78000 Versailles, France Univ Versailles Versailles France F-78000 EP, F-78000 Versailles, France Univ Bonn, Dept Prenatal Diag & Therapy, D-5300 Bonn, Germany Univ Bonn Bonn Germany D-5300 natal Diag & Therapy, D-5300 Bonn, Germany
Titolo Testata:
CLINICAL GENETICS
fascicolo: 4, volume: 56, anno: 1999,
pagine: 313 - 317
SICI:
0009-9163(199910)56:4<313:PHDADO>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
NONSPECIFIC ALKALINE-PHOSPHATASE; PYRIDOXAL-5'-PHOSPHATE LEVELS; INFANTILE HYPOPHOSPHATASIA; MISSENSE MUTATIONS; LETHAL FORM; GENE; IDENTIFICATION; SERUM;
Keywords:
alkaline phosphatase; diagnosis; heterozygote carrier; mutation; perinatal hypophosphatasia;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
21
Recensione:
Indirizzi per estratti:
Indirizzo: Brenner, RE Univ Ulm, Dept Orthopaed, Div Biochem Joint & Connect Tissue Dis, Oberer Eselsberg 45, D-89081 Ulm, Germany Univ Ulm Oberer Eselsberg 45 Ulm Germany D-89081 Ulm, Germany
Citazione:
B. Gehring et al., "Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family", CLIN GENET, 56(4), 1999, pp. 313-317

Abstract

We report on two families in which one or two children had a severe disorder of skeletal development detected by prenatal ultrasonography. The children died postnatally and showed typical radiological and biochemical findings of perinatal hypophosphatasia. Biochemical analysis revealed a low activity of alkaline phosphatase (AP) and a high value of pyridoxal-5-phosphate (PLP), one of its natural substrates. The screening for mutations of the tissue nonspecific alkaline phosphatase (TNSALP) gene showed homozygosity for a point mutation (G 317 --> D) in the two affected children of the first family. The affected child of the second family was homozygous for a nonsensemutation (R 411 --> X). Family screening revealed that the determination of AP and PLP is helpful for detection of heterozygotes. However, heterozygote children had values of AP in the lower normal range during phases of rapid growth. The determination of PLP proved to be more sensitive in these cases. It should be kept in mind that during the last trimester of gestation there is an increase in maternal AP activity and a normalization of PLP dueto placental AP, which is not affected. Therefore, in the course of a prenatal diagnosis in an index case, paternal blood should be analyzed in parallel. For detailed genetic counseling and early prenatal diagnosis in following pregnancies, the possibility of mutation analysis should be used.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/09/20 alle ore 14:11:31