Linked Life Data

17384481

Source:http://linkedlifedata.com/resource/pubmed/id/17384481

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2007-3-26
pubmed:abstractText
Hypophosphatasia is an inherited disorder characterized by defective bone mineralization and a deficiency in tissue-nonspecific alkaline phosphatase (TNSALP) activity. This disorder is caused by various mutations of the TNSALP gene. We report here the prenatal diagnosis of the perinatal (lethal) type of hypophosphatasia in a sibling of an affected infant. The infant had been found to have hypophosphatasia on the basis of both clinical and radiologic manifestations and the finding of a homozygous single T nucleotide deletion at 1559 (1559delT) of the TNSALP gene on molecular analysis. Both parents were carriers with a heterozygous mutation in the same position, although they were not consanguineous. After their next child had been conceived, fetal genomic DNA was extracted from cultured cells of amniotic fluid at 15 weeks' gestation. The fetus had a homozygous 1559delT mutation. An ultrasonography examination at 19 weeks' gestation showed marked hypomineralization of all bony structures. A prenatal genetic diagnosis for hypophosphatasia in combination with ultrasonography is thus considered to be useful for confirming the diagnosis of hypophosphatasia, which presents with a wide variety of phenotypes. As a result, prenatal genetic counseling for hypophosphatasia with collaboration between obstetricians and clinical genetics teams.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1345-4676
pubmed:author
pubmed:issnType
Print
pubmed:volume
74
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
65-9
pubmed:dateRevised
2011-8-1
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Prenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia.
pubmed:affiliation
Division of Clinical Genetics, Nippon Medical School Hospital. aw3703@nms.ac.jp
pubmed:publicationType
Journal Article, Case Reports