Goyal Chanan, Naqvi Waqar M, Sahu Arti, Aujla Ashish S
Physiotherapy, Datta Meghe Institute of Medical Sciences, Wardha, IND.
Paediatric Neurology, Kids Care Paediatric Neurology Center, Raipur, IND.
Cureus. 2020 Dec 29;12(12):e12352. doi: 10.7759/cureus.12352.
Xia-Gibbs syndrome (XGS) is a rare genetic disorder that has been discovered as a distinct clinical entity in the recent past. The occurrence has been attributed to the mutation of AT Hook DNA binding motif Containing 1 (AHDC1) gene that is carried on chromosome 1p36. The concerned gene participates in deoxyribonucleic acid (DNA) repair apart from other crucial functions. The mutation results in dysfunction that leads to neurodevelopmental delay. The spectrum of manifestations constitutes intellectual disabilities, hypotonia, expressive language delay, sleep difficulties, and short stature. Dysmorphic facial features include depressed nasal bridge, hypertelorism, down-slanting or up-slanting palpebral fissures, horizontal eyebrows, dysplastic dentition, thin upper lip vermilion, and micrognathia. The phenotype is still expanding. The condition may range from mild to severe dysfunction depending on the area and site of genetic aberration but variation is evident. Thus, the correlation between genotype and phenotype is largely unclear. XGS should be considered as a differential diagnosis for patients presenting with intellectual as well as developmental disabilities. Whole-exome sequencing (WES) is the genetic test that is largely used for the confirmation of diagnosis. Less is known about the natural history as only a few adults with XGS have been documented in the literature. Age-appropriate cancer screening is recommended for patients with XGS as the gene mutation alters DNA repair mechanisms that may trigger tumour formation. The management of patients diagnosed with XGS is an area that needs investigation. Though use of growth hormone replacement therapy and physiotherapy intervention have been reported as effective in previous studies, research on effective means of care of these patients is warranted on a larger number of patients. We present a review of current literature on what is known about XGS that would facilitate to identify knowledge gaps for paving a way for further studies. This, in turn, will help in provision of early and effective rehabilitation services for patients with XGS.
夏-吉布斯综合征（XGS）是一种罕见的遗传性疾病，直到最近才被确认为一种独特的临床实体。其发病归因于1号染色体p36区域携带的含AT钩DNA结合基序1（AHDC1）基因的突变。该相关基因除了具有其他重要功能外，还参与脱氧核糖核酸（DNA）修复。这种突变会导致功能障碍，进而引起神经发育迟缓。其临床表现包括智力残疾、肌张力减退、表达性语言发育迟缓、睡眠困难和身材矮小。面部畸形特征包括鼻梁凹陷、眼距增宽、睑裂向下或向上倾斜、水平眉、牙列发育不良、上唇唇红变薄和小颌畸形。其表型仍在不断扩展。病情严重程度可能因基因变异的区域和位点不同而有所差异，从轻度功能障碍到重度功能障碍不等，但个体差异明显。因此，基因型与表型之间的相关性在很大程度上尚不清楚。对于出现智力和发育障碍的患者，应将XGS作为鉴别诊断之一。全外显子测序（WES）是目前主要用于确诊的基因检测方法。由于文献中仅记载了少数成年XGS患者，因此对其自然病史了解较少。建议对XGS患者进行适龄的癌症筛查，因为基因突变会改变DNA修复机制，可能引发肿瘤形成。对于确诊为XGS的患者的管理是一个需要研究的领域。尽管先前的研究报告称生长激素替代疗法和物理治疗干预有效，但仍有必要对更多患者开展关于这些患者有效护理方法的研究。我们对目前有关XGS的文献进行了综述，这将有助于识别知识空白，为进一步研究铺平道路。反过来，这将有助于为XGS患者提供早期和有效的康复服务。
