Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).
Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).
复制标题
DOI：
10.1002/ajmg.a.62049
复制
发表时间：
2021-03
期刊：
影响因子：
--
通讯作者：
中科院分区：
文献类型：
--
作者：
夏-吉布斯综合征(XGS)是一种非常罕见的遗传病。临床谱系非常广泛和多变。我们报告了一例患有XGS的刚果男孩的表型和进化。6岁时，他有语言迟缓、流口水、明显的多动症、注意力缺陷、攻击性行为和智力残疾。形态异常表现为斜视、轻度单侧上睑下垂、耳垂隆起、人中平坦、上唇朱红变薄、上颚高弓、足扁平。仅对患者的完整外显子组测序发现了AHDC1AHD1基因[NM_001029882.3(AHDC1)：c.1122dupC；(p.Gly375ArgfsTer3)].中一个已知的致病移码变体临床随访显示，12岁时他的精细运动技能和明显的小脑表型恶化，包括震颤、小脑凹陷和步态不稳定。我们将这名患者与之前报道的三名具有相同变异的患者进行了比较，但没有发现症状随年龄变化的一致模式。
Xia-Gibbs syndrome (XGS) is a very rare genetic condition. The clinical spectrum is very broad and variable. We report the phenotype and evolution in a Congolese boy with XGS. At 6 years he had speech delay, drooling, marked hyperactivity, attention deficit, aggressive behavior and intellectual disability. Dysmorphological evaluation revealed strabismus, mild unilateral ptosis, uplifted ear lobes, flat philtrum, thin upper lip vermillion, high arched palate and flat feet. Patient-only whole exome sequencing identified a known pathogenic frameshift variant in the AHDC1 gene [NM_001029882.3(AHDC1):c.1122dupC;(p.Gly375ArgfsTer3)]. The clinical follow-up revealed the deterioration of his fine motor skills and significant cerebellar phenotype including tremor, pes cavus and gait instability at the age of 12 years. We compared this patient to three previously reported patients with the same variant but did not identify a consistent pattern in the evolution of symptoms with age.