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Life
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Molecular Mechanisms and Novel Therapeutics in Pigmentation Disorders
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Molecular Mechanisms and Novel Therapeutics in Pigmentation Disorders

A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Physiology and Pathology".

Deadline for manuscript submissions: closed (1 July 2022) | Viewed by 3560

Special Issue Editor

Prof. Dr. Lingli Yang

E-Mail Website
Guest Editor
Department of Pigmentation Research and Therapeutics, Graduate School of Medicine, Osaka City University, Osaka 545-0041, Japan
Interests: skin; hair; iris; pigmentation; melanocytes; melanin; melanogenesis; vitiligo; albinism; melasma; lentigo; halo nevus; melanoma; gray hair
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Pigmentation gives color to the skin, hair, and iris of the eye. Abnormal pigment distribution or production result in pigmentation disorders, known as hypopigmentation and hyperpigmentation, including vitiligo, albinism, melasma, gray hair, iris melanosis and iris albinism, etc. The underlying pathological mechanisms involved in regulating normal pigmentation are complicated, and are still not fully understood in many pigmentary diseases. The pigment-producing cell, the melanocyte, is known to be developed from the neural crest. In the past few years, tremendous effort has been invested in making progress in understanding their underlying pathomechanisms. However, owing to their etiological complexity, we still do not understand how and why these diseases develop. An interplay of the microbiome, environmental stressors and the internal environment around the melanocyte, and cross talk between epithelial cells, neural cells and immune cells are now being intensively studied. This Special Issue of Life welcomes a broad range of basic, preclinical and translational original and review articles focused on groundbreaking research in this field. We welcome novel work exploring important aspects of the molecular pathogenesis of pigmentation disorders and specific therapeutic strategies.

Prof. Dr. Lingli Yang
Guest Editor

Manuscript Submission Information

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Life is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • pigmentation
  • vitiligo
  • albinism
  • melasma
  • lentigo
  • halo nevus
  • melanoma
  • gray hair

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Published Papers (1 paper)

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Research

14 pages, 4282 KiB  
Article
Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism
by 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 and Adel Abuzenadah
Life 2022, 12(1), 14; https://doi.org/10.3390/life12010014 - 23 Dec 2021
Cited by 4 | Viewed by 2977
Abstract
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 (HPS6), are distinguished by their genetic cause and pigmentation pattern. HPS6 is characterized [...] Read more.
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 (HPS6), are distinguished by their genetic cause and pigmentation pattern. HPS6 is characterized by OCA, nose bleeding due to platelet dysfunction, and lysosome storage defect. To date, 25 disease-associated mutations have been reported in the HPS6 gene. Methods: DNA was extracted from proband, and whole-exome sequencing (WES) was performed using the Illumina NovaSeq platform. Bioinformatic analysis was done with a custom-designed filter pipeline to detect the causative variant. We did Sanger sequencing to confirm the candidate variant and segregation analysis, and protein-based structural analysis to evaluate the functional impact of variants. Result: Proband-based WES identified two novel homozygous mutations in HPS6 (double mutation, c.1136C>A and c.1789delG) in an OCA suspect. Sanger sequencing confirmed the WES results. Although no platelet and/or lysosome storage defect was detected in the patient or family, an oculocutaneous albinism diagnosis was established based on the HPS6 mutations. Structural analysis revealed the transformation of abnormalities at protein level for both nonsense and frameshift mutations in HPS6. Conclusion: To the best of our knowledge, the double mutation in HPS6 (p.Ser379Ter and p.Ala597GlnfsTer16) represents novel pathogenic variants, not described previously, which we report for the first time in the Saudi family. In silico analyses showed a significant impact on protein structure. WES should be used to identify HPS6 and/or other disease-associated genetic variants in Saudi Arabia, particularly in consanguineous families. Full article
(This article belongs to the Special Issue Molecular Mechanisms and Novel Therapeutics in Pigmentation Disorders)
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