Xin Zhang, Yanzhao Guo2, Lu Xu', Yilong Wang, Guoxia Sheng', Feng Gaol and Zhefeng Yuan1
BACKGROUND: GEMIN5 is an RNA-binding protein that regulates multiple molecular functions, including splicing, localisation,translation, and mRNA stability. GEMiN5 mutations present a syndrome centred on cerebellar dysplasia, including motordysfunction, developmental delay, cerebellar atrophy, and hypotonia.Ftlike domain of the GEMiN5 gene who presented with motor dysfunction,developmental delay, and ataxia syndrome.Novel variantswere identified: c.2551_c.2552delCT (Leu851Glufs*30) and c.2911 C > G (Gln971Glu) in Family 1, and c.3287 T > C (Leu1096Pro) andc.2882 G > C (Trp961 Ser) in Family 2, which were inherited from their parents. Moreover, infantile spasms syndrome(ISs) wasdiagnosed in thefamily.CONCLUSION: We report the first case of ISs caused by GEMIN5 gene mutations. Our cases expand on GEMIN5 variants andPe
