Identification of a novel mutation in the ryanodine receptor gene (RYR1) in a malignant hyperthermia Italian family

被引：12

作者：

Fortunato, G

Berruti, R

Brancadoro, V

Fattore, M

Salvatore, F

Carsana, A

机构：

[1] Univ Naples Federico II, Dipartimento Biochim & Biotecnol Med, I-80131 Naples, Italy

[2] CEINGE Biotecnol Avanzate, Naples, Italy

[3] Univ Naples Federico II, Cattedra Anestesia & Rianimazione, Naples, Italy

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2000年 / 8卷 / 02期

关键词：

malignant hyperthermia; ryanodine receptor; mutations;

D O I：

10.1038/sj.ejhg.5200428

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Malignant hyperthermia (MH) is an inherited autosomal dominant pharmacogenetic disorder and is one of the main causes of death subsequent to anaesthesia. Around 50% of affected families are linked to the ryanodine receptor (RYR1) gene. To date, 19 mutations have been identified in the coding region of this gene and appear to be associated with the MH-susceptible phenotype. Here we report the identification by two independent methods of a novel mutation associated with the MH-susceptible phenotype in the RYR1 gene: the 6488G->C transversion, resulting in the replacement of the Arg2163 with a proline residue.

引用

页码：149 / 152

页数：4

共 19 条

[1]

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[2]

Barone V, 1999, J MED GENET, V36, P115

[3] Deletion of amino acids 1641-2437 from the foot region of skeletal muscle ryanodine receptor alters the conduction properties of the Ca release channel [J].