We analyzed two siblings in a Japanese family with delayed onset cone-rod dystrophy (CRD) using whole-exome sequencing. A novel frameshift c.1106dup (p.H370Afs*17) variant and a known missense c.2027 T > A (p.I676N) variant in CDHR1 were identified. Both patients shared the same variants, although they displayed a significant difference in disease severity. A meta-analysis of the relationship between the severity and the variant type was performed using the reported cases in the literature and did not reveal a definitive correlation.

中文翻译：

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一个日本家庭，由新型CDHR1移码和已知的错义变体的复合杂合体引起的迟发性视锥细胞营养不良

我们使用全外显子组测序分析了日本家庭中迟发性锥体棒营养不良（CRD）的两个兄弟姐妹。一种新的移码c.1106dup（p.H370Afs * 17）变体和错义已知c.2027 T> A（p.I676N）变体在CDHR1进行鉴定。两名患者共享相同的变异体，尽管他们在疾病严重程度方面显示出显着差异。对严重性和变异类型之间关系的荟萃分析是使用文献中报道的病例进行的，并未显示出明确的相关性。