2017
DOI: 10.1002/ajmg.a.37991
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Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia

Abstract: Hypophosphatasia (HPP) is a rare autosomal dominant or recessive metabolic disorder caused by mutations in the tissue nonspecific alkaline phosphatase gene (ALPL). To date, over 300 different mutations in ALPL have been identified. Disease severity is widely variable with severe forms usually manifesting during perinatal and/or infantile periods while mild forms are sometimes only diagnosed in adulthood or remain undiagnosed. Common clinical features of HPP are defects in bone and tooth mineralization along wi… Show more

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Cited by 38 publications
(33 citation statements)
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“…The ALPL disease-causing variants database (http://www.se-sep.uvsq. fr/03_hypo_mutations.php) was also consulted to obtain up-to-date information about the genetic variants included in our study (Additional file 1: Table S1) already identified [25][26][27][28][29][30][31][32][33][34][35][36]. Variants were classified according to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines [20].…”
Section: Genetic Analysismentioning
confidence: 99%
“…The ALPL disease-causing variants database (http://www.se-sep.uvsq. fr/03_hypo_mutations.php) was also consulted to obtain up-to-date information about the genetic variants included in our study (Additional file 1: Table S1) already identified [25][26][27][28][29][30][31][32][33][34][35][36]. Variants were classified according to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines [20].…”
Section: Genetic Analysismentioning
confidence: 99%
“…To our knowledge large duplications on the ALPL gene have not been reported to date, but minor duplications is not rare (8,9). Herein, we report a novel large homozygote duplication encompassing exons 2 to 6 of the ALPL gene.…”
Section: Discussionmentioning
confidence: 82%
“…Our data show that CSF3R is tended to underexpressed in AML patients with a normal karyotype and may serve as a special genetic biomarker for the prognosis and treatment of AML patients with a normal karyotype. Tissue-nonspecific alkaline phosphatase (ALPL) plays a role in bone biomineralization, and mutations in this gene are used to diagnose hypophosphatasia (27). Further studies are needed to reveal the functions of ALPL in AML.…”
Section: Discussionmentioning
confidence: 99%