UNASSIGNED: A 28-year-old female patient, who was clinically diagnosed with KS in her childhood, presented with HH and anosmia, mild bilateral sensorineural hearing loss (SNHL), and pigmentation abnormalities. Next-generation sequencing analysis detected a missense heterozygous SOX10 pathogenic variant (NM_006941.4:c.506C>T) in the proposita and in her mother, whose phenotype included exclusively anosmia and hypopigmented skin patches. The same variant has been described by Pingault et al. [Clin Genet. 2015;88(4):352-9] in a patient with apparently isolated bilateral severe SNHL.
UNASSIGNED: Our finding substantiates the extreme phenotypic variability of SOX10-related disorders, which range from classical KS and/or WS to contracted endophenotypes that could share a common pathway in the development of neural crest cells and highlights the need for careful evaluation and long-term follow-up of SOX10 patients, with special focus on atypical/additional and/or late-onset phenotypic traits.
■一位28岁的女性患者,她在童年时期被临床诊断出患有KS,表现为HH和嗅觉缺失,轻度双侧感音神经性听力损失(SNHL),和色素异常.下一代测序分析检测到一个错义杂合的SOX10致病变异体(NM_006941.4:c.506C>T),其表型仅包括嗅觉缺失和色素减退的皮肤斑块。Pingault等人已经描述了相同的变体。[ClinGenet。2015;88(4):352-9]在明显孤立的双侧严重SNHL患者中。
■我们的发现证实了SOX10相关疾病的极端表型变异性,从经典的KS和/或WS到收缩的内表型,这些内表型可能在神经c细胞的发育中具有共同的途径,并强调需要对SOX10患者进行仔细评估和长期随访。特别关注非典型/额外和/或迟发性表型特征。