Identification of a novel GNAS mutation for pseudohypoparathyroidism in a Chinese family.

Abstract

Pseudohypoparathyroidism (PHP) is a heterogeneous group of diseases characterized by hormone resistance to receptors that stimulate adenylate cyclase. PHP-Ia patients show specific Gs-alpha protein deficiency, PTH/TSH/gonadotropin resistance, and a phenotype characterized by Albright hereditary osteodystrophy (AHO). Many heterozygous mutations in the GNAS gene encoding the Gs protein have been identified in PHP-Ia. We describe two boys with hypocalcemia and elevated serum levels of PTH in a Chinese family. The 13 exons of the GNAS gene were amplified using 15 pairs of GNAS-specific primers and analyzed by direct sequencing. We found a novel frame shift mutation in exon 11 of the GNAS gene identified in both of the two boys and their mother. This report provides another example of a Gs-alpha mutation leading to PHP.

• Authors: Li-Hao Sun, Bin Cui, Hong-Yan Zhao, Bei Tao, Wei-Qing Wang, Xiao-Ying Li, Guang Ning, Jian-Min Liu
• Journal: Endocrine (Endocrine) Vol. 36 Issue 1 Pg. 25-9 (Aug 2009) ISSN: 1355-008X [Print] United States
• PMID: 19381884 (Publication Type: Case Reports, Journal Article)

Chemical References

• Chromogranins
• GNAS protein, human
• GTP-Binding Protein alpha Subunits, Gs

Topics

• Asian People (genetics)
• Basal Ganglia (diagnostic imaging)
• Base Sequence
• Child, Preschool
• Chromogranins
• Family Health
• Fibrous Dysplasia, Polyostotic (diagnostic imaging, genetics)
• Frameshift Mutation
• GTP-Binding Protein alpha Subunits, Gs (chemistry, genetics)
• Heterozygote
• Humans
• Infant
• Male
• Pedigree
• Protein Structure, Tertiary
• Pseudohypoparathyroidism (diagnostic imaging, genetics)
• Radiography