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Catalog
2023 ACMG Annual Clinical Genetics Meeting Digital ...
An Analysis of
ALPL
Gene Variants in Pati ...
An Analysis of
ALPL
Gene Variants in Patients With Hypophosphatasia From the Global Hypophosphatasia Registry
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Pdf Summary
This study analyzed the ALPL gene variants in patients with hypophosphatasia (HPP) enrolled in the Global HPP Registry. HPP is a rare metabolic disorder characterized by low alkaline phosphatase activity due to ALPL gene variants. The study aimed to describe the ALPL variants in a large cohort of HPP patients. <br /><br />Most patients in the study had pediatric-onset HPP and were white and female. The majority of patients had at least one non-benign variant, with the exception of Japan where a higher proportion of patients had two or more non-benign variants. Variants were classified based on their pathogenicity, and the most common variant effect was missense. However, in Japan, a higher proportion of frameshift variants were identified. <br /><br />The study also identified 28 patients with unique and novel variants, including variants such as c.1018C>T and c.1327G>T. The study provides insights into the distribution of ALPL variants in HPP patients from different geographic regions.<br /><br />Overall, this analysis of the Global HPP Registry data showed that most patients had identified ALPL variants. The variant status, pathogenicity, and effects were similar across geographic regions, except for more variants and frameshift variants in Japan. The study helps improve the understanding of the genetic basis of HPP and can aid in the diagnostic process for patients with this rare disease.
Asset Subtitle
Co-Author - Priya Kishnani, MD; Co-Author - Kathryn M. Dahir, MD; Co-Author - Gabriel Á. Martos-Moreno, MD, PhD; Co-Author - Agnès Linglart, MD, PhD; Co-Author - Anna Petryk, MD; Presenting Author - William R. Mowrey, PhD; Co-Author - Shona Fang, ScD; Co-Author - Cheryl Rockman-Greenberg, MD, CM; Co-Author - Keiichi Ozono, MD; Co-Author - Wolfgang Högler, MD; Co-Author - Lothar Seefried, MD;
Meta Tag
Biochemical genetics
Epigenetics
Genotype-Phenotype Correlations
Identification of Disease Genes
Population Genetics
Co-Author
Priya Kishnani, MD
Co-Author
Kathryn M. Dahir, MD
Co-Author
Gabriel Á. Martos-Moreno, MD, PhD
Co-Author
Agnès Linglart, MD, PhD
Co-Author
Anna Petryk, MD
Co-Author
Shona Fang, ScD
Co-Author
Cheryl Rockman-Greenberg, MD, CM
Co-Author
Keiichi Ozono, MD
Co-Author
Wolfgang Högler, MD
Co-Author
Lothar Seefried, MD
Presenting Author
William R. Mowrey, PhD
Keywords
ALPL gene variants
hypophosphatasia
Global HPP Registry
metabolic disorder
alkaline phosphatase activity
pediatric-onset HPP
pathogenicity
missense variants
frameshift variants
unique and novel variants
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