Clinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrations

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dc.contributor.authorAraci, Mehmet Bilal
dc.contributor.authorAkgun, Bilcag
dc.contributor.authorAtik, Tahir
dc.contributor.authorIsik, Esra
dc.contributor.authorGunes, Ak
dc.contributor.authorBarutcuoglu, Burcu
dc.contributor.authorOzkinay, Ferda
dc.date.accessioned2021-05-03T20:21:35Z
dc.date.available2021-05-03T20:21:35Z
dc.date.issued2021
dc.departmentEge Üniversitesien_US
dc.description.abstractBackground Hypophosphatasia is a rare inherited metabolic disease resulted by ALPL gene mutations. It is characterized by defective bone and teeth mineralization. The phenotypic spectrum is highly variable ranging from lethal perinatal form to mild forms which are only diagnosed in adulthood or remain undiagnosed despite persistently low concentrations of ALP. The aim of this study is to evaluate the clinical phenotype and frequency of ALPL mutations in a group of patient with hypophosphatasaemia. Methods Thirty individuals with alkaline phosphatase values below 40 IU/L in at least two assessments and having no alternative explanation for their low ALP concentrations were included in the study. The clinical features and radiological data of the study group were re-investigated for hypophosphatasia-related findings. ALPL sequence analysis was performed using Sanger sequencing. Results No patient in the study group had severe symptoms, nor had they initially been diagnosed as having hypophosphatasia. Four different heterozygous ALPL mutations (c.542C>T, c.648 + 1G>A, c.657G>T and c.862 + 1G>C) were found in four patients. One splice site mutation (c.862 + 1G>C) was reported for the first time in this study. Conclusion ALPL sequence analysis may help to diagnosing genetic defects in individuals with persistently low ALP concentrations and provide to take preventive measures before symptoms appear. As in the other populations, HPP displays allelic heterogeneity in our population.en_US
dc.description.sponsorshipEge University Scientific Research Projects CoordinationEge University [2017-TIP-027]en_US
dc.description.sponsorshipThe author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This work was supported by the Ege University Scientific Research Projects Coordination (grant number 2017-TIP-027).en_US
dc.identifier.doi10.1177/00045632211000102en_US
dc.identifier.issn0004-5632
dc.identifier.issn1758-1001
dc.identifier.pmid33601892en_US
dc.identifier.scopus2-s2.0-85103076045en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org/10.1177/00045632211000102
dc.identifier.urihttps://hdl.handle.net/11454/69383
dc.identifier.wosWOS:000633612400001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSage Publications Incen_US
dc.relation.ispartofAnnals of Clinical Biochemistryen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectHypophosphatasiaen_US
dc.subjectlow serum alkaline phosphataseen_US
dc.subjectALPL mutationsen_US
dc.titleClinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrationsen_US
dc.typeArticleen_US

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