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Pseudohypoparathyroidism Type Ia-Clinical Case with a Novel Mutation of GNAS1 Gene | OMICS International | Abstract
ISSN: 2169-0111

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Case Report

Pseudohypoparathyroidism Type Ia-Clinical Case with a Novel Mutation of GNAS1 Gene

Hanaa Zidan1*, Steven J Steinberg2 and Alvina R Kansra3
1Division of Endocrinology, Department of Pediatrics, Children’s Hospital of Michigan, Detroit, USA
2DNA Diagnostic Lab, Institute of Genetic Medicine, Johns Hopkins University, USA
3Section of Endocrinology and Diabetes, Department of Pediatrics Medical College of Wisconsin, Milwaukee, WI, USA
Corresponding Author : Alvina R Kansra
Division of Endocrinology, Diabetes and Metabolism
Children’s Hospital and Health System
8701 Water Plank Road
Milwaukee, Wisconsin 53226, USA
Tel: 414.266.6750
Fax: 414.266.6749
E-mail: [email protected]
Received August 15, 2013; Accepted October 07, 2013; Published October 11, 2013
Citation: Zidan H, Steinberg SJ, Kansra AR (2013) Pseudohypoparathyroidism Type Ia-Clinical Case with a Novel Mutation of GNAS1 Gene. Adv Genet Eng 2:115. doi:10.4172/2169-0111.1000115
Copyright: © 2013 Zidan H, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Pseudohypoparathyroidism (PHP) is a rare autosomal dominant disorder resulting from loss of function mutations in the GNAS gene. Several forms of PHP are noted. PHP type 1a occurs most commonly and is characterized by physical features termed Albright’s Hereditary Osteodystrophy (AHO), a constellation of physical features which may include short stature, obesity, round facies, heterotopic ossification, brachydactyly and mental retardation, and increased levels of parathyroid hormone (PTH) due to the end organ hormone resistance to its action. Here we report a new GNAS mutation in a 3.5 years old African American female patient with a history of round facies, developmental delays, obesity and seizure disorder; she was admitted for apneic episode and noted to have prolonged QTc interval on cardiac monitor. A lab evaluation showed severe hypocalcaemia, hyperphosphatemia, high PTH with normal magnesium and alkaline phosphatase levels. She also had slightly elevated Thyroid Stimulating Hormone (TSH) levels indicative of type 1 a PHP where resistance to multiple Gs protein-coupled hormones (e.g. PTH, TSH, Luteinizing Hormone (LH), Follicular Stimulating Hormone (FSH), and Growth Hormone Releasing Hormone (GHRH)) is present. Full genomic DNA sequencing of the exons and adjacent intronic regions of the GNAS gene revealed a novel heterozygous mutation in intron 7, c.585+1G>A, in both the patient and her mother.

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