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

Autor:	Mohamed Aashiq, Asma Jassim Malallah, Farheen Khan, Maryam Alsada
Jazyk:	angličtina
Rok vydání:	2020
Předmět:	Pediatrics RJ1-570
Zdroj:	Case Reports in Pediatrics, Vol 2020 (2020)
Druh dokumentu:	article
ISSN:	2090-6803 2090-6811
DOI:	10.1155/2020/7312894
Popis:	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.
Databáze:	Directory of Open Access Journals
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