背景:Wolfram样综合征(WFLS)是一种常染色体显性遗传性疾病,其特征是WFS1基因中的单个杂合致病变异。其临床表现与常染色体隐性Wolfram综合征相似。
方法:我们报告了一例10岁男孩和他的家人最初出现听力障碍(HI)的病例,其次是视神经萎缩.基因检测显示存在WFS1变体(chr4-6302385exon8NM_006005.3:c.2590G>A,p.Glu864Lys)。
结论:Wolfram样综合征,一种罕见的神经退行性遗传疾病,表现为耳聋,视神经萎缩,和糖尿病。目前还没有明确的治疗方法。早期鉴定WFS1基因中的变异体对遗传咨询是有益的。
BACKGROUND: Wolfram-like syndrome (WFLS) is an autosomal dominant inherited disease characterized by a single heterozygous pathogenic variant in the WFS1 gene. Its clinical presentation is similar to autosomal recessive Wolfram syndrome.
METHODS: We reported a
case of a 10-year-old boy and his family members who initially experienced hearing impairment (HI), followed by optic atrophy. Genetic testing revealed the presence of a WFS1 variant (chr4-6302385 exon8 NM_006005.3: c.2590G > A, p. Glu864Lys).
CONCLUSIONS: Wolfram-like syndrome, a rare neurodegenerative genetic disorder, manifested as deafness, optic atrophy, and diabetes mellitus. There hasn\'t been a definite treatment yet. Early identification of the variant in the WFS1 gene is beneficial for genetic counseling.