2例神经退行性变伴脑铁沉积症5型患儿临床及遗传学分析

Analysis of clinical and pedigree genetics in two cases with neurodegeneration with brain iron accumulation 5

目的探讨神经退行性变伴脑铁沉积症5型(NBIA5)患儿的临床及遗传学特征。方法分析2例NBIA5患儿临床表现及影像学结果,并用全外显子检测技术对患儿及家系进行WDR45基因测序。结果患儿分别为10个月男性和3岁10个月女性,均有全面性发育迟缓。1例有疑似癫痫发作史,MRI提示脑实质进行性萎缩;另1例有癫痫病史,MRI提示双侧苍白球T2WI及T2Flair上信号稍高。基因测序显示均存在WDR45基因突变,1例为未见报道的第6外显子c.276-c 277 insC移码突变,另1例为已有报道的第3外显子c. 19 C>T提前终止;2例患儿父母均为WDR45野生型。结论 WDR45全外显子基因测序结合病史及MRI可诊断NBIA5。

ObjectiveTo investigate the clinical characteristics and pedigree genetics of neurodegeneration with brain iron accumulation 5. MethodsClinical features and imaging fndings of two patients with neurodegeneration with brain iron accumulation 5 were analyzed, and whole-exome sequencing was used to identify WDR45 gene mutations. ResultsA ten month old male infant and a three-year-old female child had history of comprehensive development retardation, the boy had a history of suspected seizures, magnetic resonance imaging （MRI） showed progressive brain atrophy; and the girl had a history of epilepsy, cranial MRI showed slightly hyperintense on T2-weighted images and T2 Flair in the globus pallidus. Whole-exome sequencing identifed a novel frameshift mutation c.276-c277insC in exon 6 of WDR45 in the boy and a reported mutation c.19C〉 Tin in the girl, which were not found in both parents. Conclusion The WDR45 gene sequencing combined with medical history and cranial MRI can be used to diagnose neurodegeneration with brain iron accumulation 5 .