中的一种新型8碱基对重复导致轻度智力残疾。
A novel 8-bp duplication in causes mild intellectual disability.
作者信息
Salehi Chaleshtori Ahmad Reza, Miyake Noriko, Ahmadvand Mohammad, Bashti Oranous, Matsumoto Naomichi, Noruzinia Mehrdad
机构信息
1Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, P.O. Box 14115-331 Tehran, Iran.
2Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004 Japan.
出版信息
Hum Genome Var. 2018 May 21;5:7. doi: 10.1038/s41439-018-0007-9. eCollection 2018.
Inosine is a base located at wobble position 34 of the tRNA anticodon stem-loop, enabling the recognition of more than one codon in the translation process. A heterodimer consists of ADAT3 and ADAT2 and is involved in the adenosine-to-inosine conversion in tRNA. Here, we report the second novel mutation in a patient with microcephaly, intellectual disability, and hyperactivity. These findings constitute a second mutation and expand the clinical spectrum of extremely rare mutations.
肌苷是位于tRNA反密码子茎环摆动位置34的一种碱基，可在翻译过程中识别不止一种密码子。一种异二聚体由ADAT3和ADAT2组成，参与tRNA中腺苷到肌苷的转化。在此，我们报告了一名患有小头畸形、智力残疾和多动的患者的第二例新突变。这些发现构成了第二例突变，并扩展了极其罕见突变的临床谱。
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