A Novel GNAS1 Mutation in a German Family with Albright's Hereditary Osteodystrophy

被引：3
|
作者：
Klagge, A. [1 ]
Jessnitzer, B. [1 ]
Pfaeffle, R. [2 ]
Stumvoll, M. [1 ]
Fuhrer, D. [1 ]
机构：
[1] Univ Leipzig, Div Endocrinol & Nephrol, Dept Internal Med, D-04103 Leipzig, Germany
[2] Univ Childrens Hosp, Leipzig, Germany
来源：
EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES | 2010年 / 118卷 / 09期
关键词：
G proteins; signal transduction; gonadotrophins; hormones; thyrotropin; GS-ALPHA-GENE; STIMULATORY-G-PROTEIN; PSEUDOHYPOPARATHYROIDISM TYPE-IA; NUCLEOTIDE REGULATORY PROTEIN; ADENYLYL-CYCLASE; SIGNAL-TRANSDUCTION; HORMONE RESISTANCE; DEFICIENT ACTIVITY; PARENTAL ORIGIN; G(S)ALPHA;
D O I：
10.1055/s-0029-1237708
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Albright's hereditary osteodystrophy (AHO) is an inherited disorder and results from heterozygous loss of function mutation within the human G(s)alpha gene (GNAS1). AHO appears in two phenotypes, that may occur within the same family. Pseudohypoparathyroidism type Ia (PHP Ia) comprises the clinical features of AHO associated with parathyroid hormone (PTH) resistance while pseudo-pseudohypoparathyroidism (PPHP) includes AHO features without PTH resistance. In the present study we report a mother and a daughter with PPHP and PHP Ia respectively. The 13 exons of GNAS1 were analysed by PCR and direct sequencing. We identified a heterozygous missense mutation in exon 1. This novel mutation results in a stop at codon 35 and a truncated non-functional GNAS1 protein.
引用
收藏
页码：586 / 590
页数：5
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