Two Novel Homozygous <i>HPS6</i> Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism

Two Novel Homozygous <i>HPS6</i> Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism

Background: Oculocutaneous albinism (OCA) is an autosomal recessive disorder of low or missing pigmentation in the eyes, hair, and skin. Multiple types of OCA, including Hermansky-Pudlak syndrome 6 (<i>HPS6</i>), are distinguished by their genetic cause and pigmentation pattern. <i>...

Full description

Bibliographic Details
Main Authors: Sajjad Karim, Samah Saharti, Nofe Alganmi, Zeenat Mirza, Ahmed Alfares, Shereen Turkistany, Manal Al-Attas, Hend Noureldin, Khadega Al Sakkaf, Heba Abusamra, Mohammed Al-Qahtani, Adel Abuzenadah
Format: Article
Language:English
Published: MDPI AG 2021-12-01
Series:Life
Subjects:
oculocutaneous albinism
Hermansky-Pudlak syndrome 6
whole-exome sequencing
<i>HPS6</i> gene
double mutation
Saudi Arabia
Online Access:https://www.mdpi.com/2075-1729/12/1/14

Internet

https://www.mdpi.com/2075-1729/12/1/14

Similar Items