The Youngest Infant to Be Diagnosed with Autosomal Dominant Hypocalcemia Type 2 Harboring a Novel Variant of A Case Study and Literature Review.

Eun-Jung Kwon, Min-Sun Kim, Eu-Seon Noh, Chi-Woo Kim, Jahyun Jang, Jin-Ho Choi, Sung Yoon Cho, Dong-Kyu Jin

Journal: Annals of clinical and laboratory science 2022;52(3):494-498

PMID: 35777808

Abstract

Autosomal dominant hypocalcemia (ADH) is characterized by hypocalcemia and inappropriately low PTH concentrations. ADH type 2 (ADH2) is caused by a heterozygous gain-of-function mutation in that encodes the subunit of G11, the principal G protein that transduces calcium-sensing receptor signaling in the parathyroid. Clinical features related to hypocalcemia in ADH2 range from asymptomatic to tetany and seizures. We report the clinical and molecular analysis of an infant with ADH2. Exome sequencing identified a de novo heterozygous missense variant, c. G548C (p. Arg183Pro) in This is the youngest Korean case to be diagnosed with ADH 2. In addition, we summarized the literature related to eight mutations in from 10 families.

Address: Departments of Pediatrics and Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.; Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, and Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.; Departments of Pediatrics and Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea [email protected].

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MeSH Terms: GTP-Binding Protein alpha Subunits, GTP-Binding Proteins, Humans, Hypercalciuria, Hypocalcemia, Hypoparathyroidism, Infant