Germline mosaicism in Cornelia de Lange syndrome.
Germline mosaicism in Cornelia de Lange syndrome.
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DOI：
10.1002/ajmg.a.35381
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发表时间：
2012-06
影响因子：
2
通讯作者：
Krantz, Ian D.
中科院分区：
文献类型：
--
作者：
Slavin, Thomas P.;Lazebnik, Noam;Clark, Dinah M.;Vengoechea, Jaime;Cohen, Leslie;Kaur, Maninder;Konczal, Laura;Crowe, Carol A.;Corteville, Jane E.;Nowaczyk, Malgorzata J.;Byrne, Janice L.;Jackson, Laird G.;Krantz, Ian D.
Cornelia de Lange 综合征 (CdLS) 是一种与生长迟缓、智力障碍、肢体缩小缺陷和特征性面部特征相关的遗传性疾病。当明显未受影响的父母有多个受影响的后代时，种系嵌合已被描述为 CdLS 的机制。目前，CdLS 的复发风险估计高达 1.5%；然而，这一数字可能代表性不足。我们报告了大型 CdLS 数据库中分子定义的种系嵌合病例，代表了第一个关于 CdLS 种系嵌合的大型病例系列。在这 12 个家族中，有 8 个家族之前已被描述过；然而，有四个人没有。无论是 NIPBL 还是 SMC1A 基因中，没有任何一种特定基因突变与种系嵌合体风险增加相关。我们的数据库中疑似或确诊的种系嵌合病例占总队列的保守比例为 3.4% 至 5.4%。总之，对于所有曾受过 CdLS 妊娠或儿童影响的家庭，应在产前咨询中解决因种系嵌合体引起的潜在生殖复发风险。
Cornelia de Lange syndrome (CdLS) is a genetic disorder associated with delayed growth, intellectual disability, limb reduction defects and characteristic facial features. Germline mosaicism has been a described mechanism for CdLS when there are several affected offspring of apparently unaffected parents. Presently, the recurrence risk for CdLS has been estimated to be as high as 1.5%; however, this figure may be an underrepresentation. We report on the molecularly defined germline mosaicism cases from a large CdLS database, representing the first large case series on germline mosaicism in CdLS. Of the 12 families, eight have been previously described; however, four have not. No one specific gene mutation, either in the NIPBL or the SMC1A gene, was associated with an increased risk for germline mosaicism. Suspected or confirmed cases of germline mosaicism in our database range from a conservative 3.4% up to 5.4% of our total cohort. In conclusion, the potential reproductive recurrence risk due to germline mosiacism should be addressed in prenatal counseling for all families who have had a previously affected pregnancy or child with CdLS.
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影响因子：
3.5
作者：
Helderman-van den Enden, A. T. J. M.;de Jong, R.;Bakker, E.
通讯作者：
Bakker, E.
影响因子：
9.8
作者：
Deardorff, Matthew A.;Kaur, Maninder;Krantz, Ian D.
通讯作者：
Krantz, Ian D.
影响因子：
30.8
作者：
Tonkin, ET;Wang, TJ;Strachan, T
通讯作者：
Strachan, T
影响因子：
4
作者：
NAGUIB, KK;TEEBI, AS;MARAFIE, MJ
通讯作者：
MARAFIE, MJ
DOI：
10.1002/ajmg.1320470703
发表时间：
1993-11-15
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
JACKSON, L;KLINE, AD;KOCH, S
通讯作者：
KOCH, S