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Article

Cas9-guided haplotyping of three truncation variants in autosomal recessive disease.

Human mutation - 1 Jul 2022

Natsuga Ken, Furuta Yoshikazu, Takashima Shota, Nohara Takuma, Huang Hsin-Yu, Shinkuma Satoru, Nakamura Hideki, Katsuda Yousuke, Higashi Hideaki, Hsu Chao-Kai, Fukushima Satoshi, Ujiie Hideyuki

Abstract excerpt

An autosomal recessive disease is caused by biallelic loss-of-function mutations. However, when more than two disease-causing variants are found in a patient's gene, it is challenging to determine which two of the variants are responsible for the disease phenotype. Here, to decipher the pathogenic variants by precise haplotyping, we applied nanopore Cas9-targeted sequencing (nCATS) to three truncation COL7A1...

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PMID: 35446444
DOI: 10.1002/humu.24385

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