CHD7 Mutations and CHARGE Syndrome in Semicircular Canal Dysplasia
CHD7 Mutations and CHARGE Syndrome in Semicircular Canal Dysplasia
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DOI：
10.1097/mao.0000000000000260
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发表时间：
2014-09-01
影响因子：
2.1
通讯作者：
Martin, Donna M.
中科院分区：
文献类型：
--
作者：
Green, Glenn E.;Huq, Farhan S.;Martin, Donna M.
目的：探讨半规管发育不良患者是否存在CHD7基因突变。背景：CHARGE综合征是一种非随机聚类的先天性异常，包括眼结肠瘤、心脏缺陷、后肛门闭锁或狭窄、生长发育迟缓、生殖器发育不全以及包括耳聋在内的内耳和外耳异常。半规管发育不良已被列入CHARGE综合征的主要诊断标准。染色体8q12.1上CHD7基因突变是CHARGE综合征的主要原因，但半规管发育不良患者CHD7突变的程度尚不完全清楚。研究设计：横断面分析12例半规管发育不良和不同临床特征的CHARGE综合征患者的CHD7。结果：我们确定了6个CHD7突变，其中5个发生在符合Verloes对典型CHARGE综合征诊断标准的患者中，其中3个以前未报道。其余3例CHD7突变阳性患者中，1例诊断标准为非典型CHARGE。4份MRI记录显示2例耳蜗神经发育不全，1例Chiari - 1畸形。结论：这些数据提供了额外的证据，证明CHD7突变是全或部分CHARGE综合征儿童半管管闭锁的重要原因。
Objective: To determine whether patients with semicircular canal dysplasia have mutations in CHD7.Background: CHARGE syndrome is a nonrandom clustering of congenital anomalies, including ocular coloboma, heart defects, choanal atresia or stenosis, retarded growth and development, genital hypoplasia, and inner and outer ear anomalies including deafness. Semicircular canal dysplasia has been included as a major diagnostic criterion for CHARGE syndrome. Mutations in the gene CHD7 on chromosome 8q12.1 are a major cause of CHARGE syndrome, but the extent to which patients with semicircular canal dysplasia have CHD7 mutations is not fully understood.Study Design: Cross-sectional analysis of CHD7 in 12 patients with semicircular canal dysplasia and variable clinical features of CHARGE syndrome.Results: We identified 6 CHD7 mutations, 5 of which occurred in patients who fulfilled Verloes' diagnostic criteria for typical CHARGE syndrome, and three of which were previously unreported. Of the 3 remaining CHD7 mutation-positive patients, one had atypical CHARGE by diagnostic criteria. Four MRI records were available, which revealed 2 patients with cochlear nerve aplasia and 1 patient with Chiari 1 malformation.Conclusion: These data provide additional evidence that CHD7 mutations are a significant cause of semicircular canal atresia in children with full or partial CHARGE syndrome.