Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His

Familial hypocalciuric hypercalcemia (FHH) is usually a benign condition divided into three types. FHH-3 occurs in about 20% of the cases and is caused due to missense mutations in AP2S1 (adaptor-related protein complex 2 subunit sigma 1) involving the codon Arg15 (p.R15). We report a case of FHH-3...

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Autores principales: Aashiq, Mohamed, Malallah, Asma Jassim, Khan, Farheen, Alsada, Maryam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007930/
https://www.ncbi.nlm.nih.gov/pubmed/32047691
http://dx.doi.org/10.1155/2020/7312894
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author Aashiq, Mohamed
Malallah, Asma Jassim
Khan, Farheen
Alsada, Maryam
author_facet Aashiq, Mohamed
Malallah, Asma Jassim
Khan, Farheen
Alsada, Maryam
author_sort Aashiq, Mohamed
collection PubMed
description Familial hypocalciuric hypercalcemia (FHH) is usually a benign condition divided into three types. FHH-3 occurs in about 20% of the cases and is caused due to missense mutations in AP2S1 (adaptor-related protein complex 2 subunit sigma 1) involving the codon Arg15 (p.R15). We report a case of FHH-3 with a heterozygous mutation in the AP2S1 gene on chr19_47349359 C>T, c.44G>A, p.Arg15His. There are a handful of reports describing the clinical features in patients diagnosed with FHH-3. Herein, we describe the laboratory and clinical features associated with a case of FHH-3 with mutation in the Arg15His codon of the AP2S1 gene.
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spelling pubmed-70079302020-02-11 Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His Aashiq, Mohamed Malallah, Asma Jassim Khan, Farheen Alsada, Maryam Case Rep Pediatr Case Report Familial hypocalciuric hypercalcemia (FHH) is usually a benign condition divided into three types. FHH-3 occurs in about 20% of the cases and is caused due to missense mutations in AP2S1 (adaptor-related protein complex 2 subunit sigma 1) involving the codon Arg15 (p.R15). We report a case of FHH-3 with a heterozygous mutation in the AP2S1 gene on chr19_47349359 C>T, c.44G>A, p.Arg15His. There are a handful of reports describing the clinical features in patients diagnosed with FHH-3. Herein, we describe the laboratory and clinical features associated with a case of FHH-3 with mutation in the Arg15His codon of the AP2S1 gene. Hindawi 2020-01-28 /pmc/articles/PMC7007930/ /pubmed/32047691 http://dx.doi.org/10.1155/2020/7312894 Text en Copyright © 2020 Mohamed Aashiq et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Aashiq, Mohamed
Malallah, Asma Jassim
Khan, Farheen
Alsada, Maryam
Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His
title Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His
title_full Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His
title_fullStr Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His
title_full_unstemmed Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His
title_short Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His
title_sort clinical and biochemical features in a case of familial hypocalciuric hypercalcemia type 3 with ap2s1 gene mutation in codon arg15his
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007930/
https://www.ncbi.nlm.nih.gov/pubmed/32047691
http://dx.doi.org/10.1155/2020/7312894
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