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Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia

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dc.contributor.authorBEREKET, ABDULLAH
dc.contributor.authorsHaliloglu, Belma; Guran, Tulay; Atay, Zeynep; Abali, Saygin; Mornet, Etienne; Bereket, Abdullah; Turan, Serap
dc.date.accessioned2022-03-12T18:09:58Z
dc.date.available2022-03-12T18:09:58Z
dc.date.issued2013
dc.description.abstractHypophosphatasia is a hereditary disorder characterized by a deficiency of serum and bone alkaline phosphatase (ALP) activity and defective skeletal mineralization. It is caused by a loss of function mutations in the tissue nonspecific ALP gene (TNSALP) encoding the tissue nonspecific alkaline phosphatase. A 4-year-and-8-month-old girl presented with premature exfoliation of the anterior incisors and canines. Very low ALP level (27 IU/ml) suggested the diagnosis of hypophosphatasia, which was supported by an elevated urine phosphoethanolamine/Cr of 84 mu mol/mmol (reference range, < 25 mu mol/mmol) and serum pyridoxal-5'-phosphate of 393 mu g/L (reference range, 3.6-18 mu g/L). The phenotype of the patient was subsequently classified as mild childhood hypophosphatasia. TNSALP gene sequencing revealed the homozygous c.382 G > A (p.V128M) mutation. This mutation was previously observed in a series of patients with severe hypophosphatasia, pointing out the possible role of other genetic or environmental factors in the modulation of the hypophosphatasia phenotype.
dc.identifier.doi10.1007/s00431-012-1868-4
dc.identifier.issn0340-6199
dc.identifier.pubmed23093139
dc.identifier.urihttps://hdl.handle.net/11424/231342
dc.identifier.wosWOS:000319417300021
dc.language.isoeng
dc.publisherSPRINGER
dc.relation.ispartofEUROPEAN JOURNAL OF PEDIATRICS
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectHypophosphatasia
dc.subjectTooth
dc.subjectOdontohypophosphatasia
dc.subjectInfantile teeth loss
dc.subjectALKALINE-PHOSPHATASE
dc.subjectPHENOTYPE
dc.subjectGENOTYPE
dc.titleInfantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia
dc.typearticle
dspace.entity.typePublication
local.avesis.id2ad40f43-ef72-4544-a558-387332d4f7f5
local.import.packageSS17
local.indexed.atWOS
local.indexed.atSCOPUS
local.indexed.atPUBMED
local.journal.numberofpages3
oaire.citation.endPage853
oaire.citation.issue6
oaire.citation.startPage851
oaire.citation.titleEUROPEAN JOURNAL OF PEDIATRICS
oaire.citation.volume172
relation.isAuthorOfPublication669e9474-4e39-453f-a4bc-4ede9cb5abac
relation.isAuthorOfPublication.latestForDiscovery669e9474-4e39-453f-a4bc-4ede9cb5abac

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