Back to Search Start Over

NGS-based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism.

Authors :
Okamura K
Hayashi M
Abe Y
Kono M
Nakajima K
Aoyama Y
Nishigori C
Ishimoto H
Ishimatsu Y
Nakajima M
Hozumi Y
Suzuki T
Source :
Pigment cell & melanoma research [Pigment Cell Melanoma Res] 2019 Nov; Vol. 32 (6), pp. 848-853. Date of Electronic Publication: 2019 Jun 09.
Publication Year :
2019

Abstract

Albinism, which is commonly inherited as an autosomal recessive trait, is characterized by a reduction or absence of melanin in the eyes, skin, and hair. To date, more than 20 causal genes for albinism have been identified; thus, the accurate diagnosis of albinism requires next-generation sequencing (NGS). In this study, we analyzed 46 patients who tested negative for oculocutaneous albinism (OCA)1-4 and Hermansky-Pudlak syndrome (HPS)1 based on conventional analysis, in addition to 28 new Japanese patients, using NGS-based targeted resequencing. We identified a genetic background for albinism in 18 of the 46 patients (39%), who were previously tested negative according to the conventional analysis. In addition, we unveiled a genetic predisposition toward albinism in 23 of the 28 new patients (82%). We identified six patients with rare subtypes of albinism, including HPS3, HPS4, and HPS6, and found 12 novel pathological mutations in albinism-related genes. Furthermore, most patients who were not diagnosed with albinism by the NGS analysis showed mild manifestations of albinism without apparent eye symptoms and harbored only one heterozygous mutation, occasionally in combination with skin-color associated gene variants.<br /> (© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Details

Language :
English
ISSN :
1755-148X
Volume :
32
Issue :
6
Database :
MEDLINE
Journal :
Pigment cell & melanoma research
Publication Type :
Academic Journal
Accession number :
31141302
Full Text :
https://doi.org/10.1111/pcmr.12800