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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.
- Source :
-
Annals of clinical and laboratory science [Ann Clin Lab Sci] 2022 May; Vol. 52 (3), pp. 494-498. - Publication Year :
- 2022
-
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 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.<br /> (© 2022 by the Association of Clinical Scientists, Inc.)
- Subjects :
- GTP-Binding Proteins metabolism
Humans
Hypercalciuria genetics
Hypercalciuria metabolism
Infant
GTP-Binding Protein alpha Subunits genetics
GTP-Binding Protein alpha Subunits metabolism
Hypocalcemia diagnosis
Hypocalcemia genetics
Hypocalcemia metabolism
Hypoparathyroidism congenital
Hypoparathyroidism genetics
Hypoparathyroidism metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 1550-8080
- Volume :
- 52
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Annals of clinical and laboratory science
- Publication Type :
- Academic Journal
- Accession number :
- 35777808