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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Bibliographic Details
Published in:Case reports in pediatrics 2020, Vol.2020 (2020), p.1-3
Main Authors: Alsada, Maryam, Khan, Farheen, Malallah, Asma Jassim, Aashiq, Mohamed
Format: Article
Language:English
Subjects:
Age
Attention deficit hyperactivity disorder
Case Report
Case reports
Chromosomes
Codon
Cognitive ability
Congenital diseases
Gene mutations
Genes
Genetic aspects
Hypercalcemia
Laboratories
Mental depression
Mutation
Parathyroid hormone
Patients
Phosphatase
Proteins
Signal transduction
Urine
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Summary: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.
ISSN:2090-6803
2090-6811
DOI:10.1155/2020/7312894