Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A
Apparent Germline Mosaicism for a Novel 19p13.13 Deletion Disrupting NFIX and CACNA1A
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DOI：
10.1002/ajmg.a.35790
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发表时间：
2013-05-01
影响因子：
2
通讯作者：
Shchelochkov, Oleg A.
中科院分区：
文献类型：
--
作者：
Nimmakayalu, Manjunath;Horton, V. Kim;Shchelochkov, Oleg A.
我们报告的情况下，明显的生殖系嵌合在一个家庭的两个姐妹篇携带一种新的19p13.13缺失。11岁的先证者被转介评价大头畸形，中度智力残疾（ID），和发作性共济失调。阵列比较基因组杂交（CGH）检测到一个399 kb的微缺失与断裂点内的基因NFIX和CACNA 1A。在患有大头畸形、ID和斜视的哥哥姐姐中也观察到类似的缺失。在亲本aCGH分析后证实缺失是从头发生的，表明这是生殖嵌合现象的一个实例。这项研究为新发现的19 p13缺失综合征提供了额外的信息，并阐明了相关区域基因的临床作用。这个明显的生殖系嵌合体病例是我们研究组分析的1,800例患者队列中唯一已知的家族。(C)2013 Wiley Periodicals，Inc.
We report on a case of apparent germline mosaicism in a family of two sisters carrying a novel 19p13.13 deletion. The 11-year-old proposita was referred for evaluation of macrocephaly, moderate intellectual disability (ID), and episodic ataxia. Array comparative genomic hybridization (CGH) detected a 399 kb microdeletion with breakpoints within genes NFIX and CACNA1A. A similar deletion was also seen in the elder sibling who presented with macrocephaly, ID, and strabismus. The deletions were confirmed to be de novo after the parental aCGH analysis suggesting that this is an example of germinal mosaicism. This study contributes additional information for the newly identified 19p13 deletion syndrome and clarifies the clinical roles of genes in the involved region. This case of apparent germline mosaicism represents the only known family in the cohort of 1,800 patients analyzed by our group. (C) 2013 Wiley Periodicals, Inc.