Abstract
Recently, only two splice-site mutations of the UBE2A gene have been observed in patients with X-linked ID type Nascimento (XLID). The patients with XLID had similar phenotypes, including speech impairment, severe intellectual disability, hearing loss, wide face, synophrys, generalized hirsutism, urogenital abnormalities. Here, we report a Chinese boy with a clinically very similar syndromic form of XLID, such as speech impairment, severe intellectual disability, moderate hearing loss. However, there are also different characteristics, including erected head unstable, typical four-finger line. Subsequent whole-exome sequencing showed a novel splice site mutation in UBE2A (c.241+1 G>A). Together, not only our study expands the mutation spectrum and clinical characteristics of UBE2A deficiency syndrome (also called XLID), but also this study may provide clinical evidence for genetic diagnosis.
Keywords: UBE2A;X-linked ID type Nascimento; Mutation;Splice site mutation; Whole-exome sequencing;Intellectual disability