范科尼贫血与烟雾病：关联证据

Fanconi anemia and moyamoya: evidence for an association.

作者信息

Pavlakis S G, Verlander P C, Gould R J, Strimling B C, Auerbach A D

机构信息

Department of Neurology, New York Hospital-Cornell Medical Center, NY 10021, USA.

出版信息

Neurology. 1995 May;45(5):998-1000. doi: 10.1212/wnl.45.5.998.

DOI:10.1212/wnl.45.5.998

PMID:7746424

Abstract

We report two patients with Fanconi anemia (FA) and moyamoya disease taken from a clinical database composed of 434 FA patients. Both are compound heterozygotes for the 322delG and R185X mutations in the FA complementation group C (FACC) gene. This combination of mutations is not found in any other of the 174 FA families screened. Either the 322delG or R185X mutation alone or in combination may predispose to primary, possibly congenital, vascular anomalies.

摘要

我们报告了两名患有范可尼贫血（FA）和烟雾病的患者，数据取自一个包含434名FA患者的临床数据库。两名患者均为FA互补组C（FACC）基因322delG和R185X突变的复合杂合子。在筛查的174个FA家族中，未发现其他家族存在这种突变组合。单独或联合出现的322delG或R185X突变可能易导致原发性（可能是先天性）血管异常。