A 12 Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea
A 12 Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea
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DOI：
10.1016/j.ejmg.2008.06.010
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发表时间：
2008-11-01
影响因子：
1.9
通讯作者：
Zuffardi, Orsetta
中科院分区：
文献类型：
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作者：
Rossi, Elena;Verri, Anna Pia;Zuffardi, Orsetta
在一名患有自闭症和原发性闭经的成年女性中发现了 7q33-q36 处约 12 Mb 的间质缺失。最近，两个基因 CNTNAP2 和 NOBOX 都包含在缺失区域内，分别与自闭症易感性和卵巢早衰相关。我们的研究结果强化了这样的假设，即这两个基因的单倍体不足足以导致自闭症的发展和原发性闭经的发生，证实了之前的一个案例，其中CNTNAP2已被染色体倒位破坏，并可能扩大了NOBOX突变已经证明的卵巢功能紊乱的表型。 (C) 2008 Elsevier Masson SAS。版权所有。
An interstitial deletion of about 12 Mb at 7q33-q36 was found in an adult female affected by autism and primary amenorrhea. Two genes, CNTNAP2 and NOBOX, both contained within the deletion region, have been recently associated with autism susceptibility and premature ovarian failure, respectively. Our findings reinforce the hypothesis that haploinsufficiency of both these genes is sufficient for autism development and occurrence of primary amenorrhea, confirming a previous case in which CNTNAP2 had been disrupted by a chromosome inversion and possibly enlarging the phenotype of ovarian function disturbances already demonstrated for NOBOX mutations. (C) 2008 Elsevier Masson SAS. All rights reserved.