A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants

Muhammad Nazmul Haque; Kentaro Kurata; Katsuhiro Hosono; Masafumi Ohtsubo; Kentaro Ohishi; Miho Sato; Shinsei Minoshima; Yoshihiro Hotta

doi:10.1038/s41439-019-0048-8

A Japanese family with cone-rod dystrophy of delayed onset caused by a compound heterozygous combination of novel CDHR1 frameshift and known missense variants

Hum Genome Var. 2019 Apr 12:6:18. doi: 10.1038/s41439-019-0048-8. eCollection 2019.

Authors

Muhammad Nazmul Haque^#^{1

2}, Kentaro Kurata^#², Katsuhiro Hosono², Masafumi Ohtsubo¹, Kentaro Ohishi¹, Miho Sato², Shinsei Minoshima¹, Yoshihiro Hotta²

Affiliations

¹ 1Department of Photomedical Genomics, Institute for Medical Photonics Research, Preeminent Medical Photonics Education and Research Center, Hamamatsu University School of Medicine, Hamamatsu-shi, Shizuoka-ken Japan.
² 2Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu-shi, Shizuoka-ken Japan.

^# Contributed equally.

Abstract

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.