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

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, althoug...

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Bibliographic Details
Published in:Human genome variation 2019-04, Vol.6 (1), p.18-18, Article 18
Main Authors: Haque, Muhammad Nazmul, Kurata, Kentaro, Hosono, Katsuhiro, Ohtsubo, Masafumi, Ohishi, Kentaro, Sato, Miho, Minoshima, Shinsei, Hotta, Yoshihiro
Format: Article
Language:English
Subjects:
631/1647/1513/2216
692/308/2056
Age
Biomedical and Life Sciences
Biomedicine
Data Report
Gene Expression
Gene Function
Gene Therapy
Genetics
Genomes
Human Genetics
Molecular Medicine
Mutation
Patients
Photonics
Photoreceptors
Retina
Tomography
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Summary: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.
ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-019-0048-8