两名黏液瘤综合征（卡尼综合征）患者的PRKAR1A基因突变

[PRKAR1A gene mutations in two patients with myxoma syndrome (Carney complex)].

作者信息

Skamrov A V, Feoktistova E S, Khaspekov G L, Kovalevskiĭ D A, Goriunova L E, Bibilashvili R Sh, Vinnitskiĭ L I, Sheremet'eva G F, Nechaenko M A

机构信息

Rossiĭskiĭ kardiologicheskiĭ nauchno-proizvodstvennyĭ kompleks Minzdrava Rossiĭskoĭ Federatsii, Nauchnyĭ tsentr khirurgii RAMN, 121552 Moskva, ul. 3-ia Cherepkovskaia, d.15a.

出版信息

Kardiologiia. 2003;43(7):77-82.

PMID:12891303

Abstract

Carney complex is an autosomic dominant disorder initially described as the association of cardiac myxomas, spotty skin pigmentation and endocrine overactivity and considered as a multiple neoplasia and lentiginosis syndrome. Mutations in the tumor suppressor gene PRKAR1A, coding for the type 1-alpha regulatory subunit of cAMP-depended protein kinase A have been previously identified in about half of the Carney complex kindreds. In this paper we report identification of the molecular defect in PRKARIA gene in two Carney complex patients. A new mutation (403delAC) located in a 3rd exon of PRKARIA gene has been observed in one case, and a previously described mutation in exon 7 (847delTC) in the second case.

摘要

卡尼综合征是一种常染色体显性疾病，最初被描述为心脏黏液瘤、皮肤斑点状色素沉着和内分泌功能亢进的组合，被认为是一种多发性肿瘤和雀斑综合征。肿瘤抑制基因PRKAR1A发生突变，该基因编码环磷酸腺苷依赖性蛋白激酶A的1-α调节亚基，此前在大约一半的卡尼综合征家族中已被发现。在本文中，我们报告了两名卡尼综合征患者PRKARIA基因分子缺陷的鉴定情况。在一例患者中观察到位于PRKARIA基因第3外显子的一个新突变（403delAC），在另一例患者中观察到第7外显子先前已描述的突变（847delTC）。