Sharkia Rajech, Zalan Abdelnaser, Jabareen-Masri Azhar, Zahalka Hazar, Mahajnah Muhammad
The Triangle Regional Research and Development Center, P. O. Box-2167, Kafr Qari, 30075, Israel; Beit-Berl Academic College, Beit-Berl, 44905, Israel.
The Triangle Regional Research and Development Center, P. O. Box-2167, Kafr Qari, 30075, Israel.
Eur J Med Genet. 2019 Nov;62(11):103549. doi: 10.1016/j.ejmg.2018.10.001. Epub 2018 Oct 6.
The present study describes two patients with clinical diagnosis of ID, from a consanguineous family in Israel. Whole exome sequencing identified a homozygous missense mutation in the ADAT3 gene. The clinical features of our patients were compared with several cases described in two recently published studies that documented clinical manifestation of this same mutation. Both affected siblings in our study expressed the previously described clinical features such as intellectual disability, strabismus, FTT/underweight, microcephaly and hypotonia. Interestingly, our patients suffered from additional clinical manifestations that were not detailed in the previous two studies, such as: gait difficulties, instability, teeth abnormalities, neuropathy and contractures of the hand wrist and fingers. We conclude that the ADAT3 gene mutation is responsible for ADAT3-related ID syndrome, which induces the variety clinical manifestations exhibited by our patients. Further studies aimed at identifying and characterizing additional afflicted families worldwide will be required to obtain a more comprehensive understanding of this syndrome.
本研究描述了两名来自以色列一个近亲家庭、临床诊断为智力残疾（ID）的患者。全外显子组测序在ADAT3基因中鉴定出一个纯合错义突变。我们将患者的临床特征与最近发表的两项研究中描述的几例病例进行了比较，这两项研究记录了相同突变的临床表现。我们研究中的两名患病兄弟姐妹都表现出先前描述的临床特征，如智力残疾、斜视、生长发育迟缓/体重不足、小头畸形和肌张力减退。有趣的是，我们的患者还出现了前两项研究中未详细描述的其他临床表现，如：步态困难、不稳定、牙齿异常、神经病变以及手腕和手指挛缩。我们得出结论，ADAT3基因突变是导致ADAT3相关ID综合征的原因，该综合征引发了我们患者所表现出的各种临床表现。需要进一步开展研究，以识别和描述全球范围内更多的患病家庭，从而更全面地了解这种综合征。
