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

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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Main Authors: Mohamed Aashiq, Asma Jassim Malallah, Farheen Khan, Maryam Alsada
Format: Article
Language:English
Published: Hindawi Limited 2020-01-01
Series:Case Reports in Pediatrics
Online Access:http://dx.doi.org/10.1155/2020/7312894
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spelling doaj-20dd66a06e5244338640532916e32d302020-11-25T02:09:58ZengHindawi LimitedCase Reports in Pediatrics2090-68032090-68112020-01-01202010.1155/2020/73128947312894Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15HisMohamed Aashiq0Asma Jassim Malallah1Farheen Khan2Maryam Alsada3Department of Pediatrics, Dubai Hospital, Dubai Health Authority, Dubai, UAEDepartment of Pediatrics, Dubai Hospital, Dubai Health Authority, Dubai, UAEDepartment of Pediatrics, Dubai Hospital, Dubai Health Authority, Dubai, UAEDepartment of Pediatrics, Dubai Hospital, Dubai Health Authority, Dubai, UAEFamilial 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.http://dx.doi.org/10.1155/2020/7312894
collection DOAJ
language English
format Article
sources DOAJ
author Mohamed Aashiq
Asma Jassim Malallah
Farheen Khan
Maryam Alsada
spellingShingle Mohamed Aashiq
Asma Jassim Malallah
Farheen Khan
Maryam Alsada
Clinical and Biochemical Features in a Case of Familial Hypocalciuric Hypercalcemia Type 3 with AP2S1 Gene Mutation in Codon Arg15His
Case Reports in Pediatrics
author_facet Mohamed Aashiq
Asma Jassim Malallah
Farheen Khan
Maryam Alsada
author_sort Mohamed Aashiq
title 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_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_sort clinical and biochemical features in a case of familial hypocalciuric hypercalcemia type 3 with ap2s1 gene mutation in codon arg15his
publisher Hindawi Limited
series Case Reports in Pediatrics
issn 2090-6803
2090-6811
publishDate 2020-01-01
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.
url http://dx.doi.org/10.1155/2020/7312894
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AT asmajassimmalallah clinicalandbiochemicalfeaturesinacaseoffamilialhypocalciurichypercalcemiatype3withap2s1genemutationincodonarg15his
AT farheenkhan clinicalandbiochemicalfeaturesinacaseoffamilialhypocalciurichypercalcemiatype3withap2s1genemutationincodonarg15his
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