Liang Siying, Jiang Nan, Li Shuo, Jiang Xiaohu, Yu Dongyi
Genetic Testing Center, Qingdao Women and Children's Hospital, Qingdao University, #217, Liaoyangxi Road, Qingdao, 266034 China.
Qingdao Women and Children's Hospital, Qingdao University, Qingdao, China.
Mol Cytogenet. 2017 Jun 14;10:23. doi: 10.1186/s13039-017-0324-6. eCollection 2017.
Deletions in Xq21 cause various congenital defects in males including choroideremia, deafness and mental retardation, depending on their size and gene content. Until now only a limited number of patients with Xq21 deletions has been reported.
Here we describe a 17-year-old male with choroideremia, deafness, and mental retardation syndrome. Using SNP arrays, an 8.05 Mb deletion in Xq21 was identified inherited from the apparently healthy mother. The deleted region harbors 12 OMIM genes, of which and might have contributed to the patient's phenotype including hearing loss, poor vision, and intellectual disability. Moreover, the patient's mother exhibits a normal phenotype while carrying the same deletion, which is often observed in previous studies on female carriers in families with this syndrome.
Our study confirms the causative effect between the Xq21 deletion in males and choroideremia, deafness and mental retardation.
Xq21区域的缺失会导致男性出现各种先天性缺陷，包括脉络膜视网膜病变、耳聋和智力迟钝，具体取决于缺失的大小和基因内容。到目前为止，仅有数量有限的Xq21缺失患者被报道。
在此，我们描述了一名患有脉络膜视网膜病变、耳聋和智力迟钝综合征的17岁男性。使用单核苷酸多态性（SNP）阵列，在Xq21区域发现了一个8.05兆碱基（Mb）的缺失，该缺失遗传自表面健康的母亲。缺失区域包含12个在线人类孟德尔遗传（OMIM）基因，其中 和 可能导致了患者的表型，包括听力丧失、视力不佳和智力残疾。此外，患者的母亲携带相同的缺失，但表现出正常的表型，这在以往关于该综合征家族中女性携带者的研究中经常观察到。
我们的研究证实了男性Xq21缺失与脉络膜视网膜病变、耳聋和智力迟钝之间的因果关系。
