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The Youngest Infant to Be Diagnosed with Autosomal Dominant Hypocalcemia Type 2 Harboring a Novel Variant of GNA11: A Case Study and Literature Review.
Kwon, Eun-Jung; Kim, Min-Sun; Noh, Eu-Seon; Kim, Chi-Woo; Jang, Jahyun; Choi, Jin-Ho; Cho, Sung Yoon; Jin, Dong-Kyu.
Afiliación
  • Kwon EJ; Departments of Pediatrics and Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
  • Kim MS; Departments of Pediatrics and Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
  • Noh ES; Departments of Pediatrics and Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
  • Kim CW; Departments of Pediatrics and Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
  • Jang J; 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.
  • Choi JH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
  • Cho SY; Departments of Pediatrics and Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea nadri1217@naver.com.
  • Jin DK; Departments of Pediatrics and Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
Ann Clin Lab Sci ; 52(3): 494-498, 2022 May.
Article en En | MEDLINE | ID: mdl-35777808
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 GNA11 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 GNA11. This is the youngest Korean case to be diagnosed with ADH 2. In addition, we summarized the literature related to eight mutations in GNA11 from 10 families.
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Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Subunidades alfa de la Proteína de Unión al GTP / Hipocalcemia / Hipoparatiroidismo Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Infant Idioma: En Revista: Ann Clin Lab Sci Año: 2022 Tipo del documento: Article
Buscar en Google
Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Subunidades alfa de la Proteína de Unión al GTP / Hipocalcemia / Hipoparatiroidismo Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Infant Idioma: En Revista: Ann Clin Lab Sci Año: 2022 Tipo del documento: Article