A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report

A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report

Abstract Background Pachyonychia congenita (PC, OMIM #167200, #167210, #615726, #615728, and #615735) is a rare autosomal dominant disorder caused by keratin gene mutations in KRT6A,KRT6B,KRT6C,KRT16 or KRT17. It is characterized with nail dystrophy and palmoplantar keratoderma (PPK). The most promi...

Full description

Bibliographic Details
Main Authors: Yue Li, Yumeng Wang, Yan Ming, Pan Chaolan, Zhang Jia, Ni Cheng, Cao Qiaoyu, Ming Li, Xu Tianyi
Format: Article
Language:English
Published: BMC 2021-11-01
Series:BMC Medical Genomics
Subjects:
Pachyonychia congentia (PC)
Keratin 6A
Mosaicism
Whole exome sequencing
SNaPshot sequencing
HiSeq deep sequencing
Online Access:https://doi.org/10.1186/s12920-021-01109-4

Internet

https://doi.org/10.1186/s12920-021-01109-4

Similar Items