Hereditary Hearing Impairment with Cutaneous Abnormalities

Lee, Tung-Lin; Lin, Pei‐Hsuan; Chen, Pei‐Lung; Hong, Jin‐Bon; Wu, Chen‐Chi

doi:10.3390/genes12010043

Cited by 3 publications

(3 citation statements)

References 264 publications

(301 reference statements)

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“…WS2A is caused by the mutation of microphthalmia-associated transcription factor (MITF), an essential regulator for melanocyte lineage development, and is characterized by varying degrees of pigmentation abnormalities and sensorineural hearing impairment [183]. There are other diseases exhibiting deafness or arrhythmias combined with hypopigmentation that further highlight the importance of the melanocytes, such as Alezzandrini syndrome, Vogt-Koyanagi-Harada disease, and Tietz syndrome [184][185][186]. Moreover, observations that bilateral cochlear dysfunction is common in both segmental and nonsegmental vitiligo individuals have illustrated the important role of melanocytes in cochlear function [187,188].…”

Section: Earmentioning

confidence: 99%

Recognition of Melanocytes in Immuno-Neuroendocrinology and Circadian Rhythms: Beyond the Conventional Melanin Synthesis

Chen

Liu

Zhou

et al. 2022

Cells

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Melanocytes produce melanin to protect the skin from UV-B radiation. Notwithstanding, the spectrum of their functions extends far beyond their well-known role as melanin production factories. Melanocytes have been considered as sensory and computational cells. The neurotransmitters, neuropeptides, and other hormones produced by melanocytes make them part of the skin’s well-orchestrated and complex neuroendocrine network, counteracting environmental stressors. Melanocytes can also actively mediate the epidermal immune response. Melanocytes are equipped with ectopic sensory systems similar to the eye and nose and can sense light and odor. The ubiquitous inner circadian rhythm controls the body’s basic physiological processes. Light not only affects skin photoaging, but also regulates inner circadian rhythms and communicates with the local neuroendocrine system. Do melanocytes “see” light and play a unique role in photoentrainment of the local circadian clock system? Why, then, are melanocytes responsible for so many mysterious functions? Do these complex functional devices work to maintain homeostasis locally and throughout the body? In addition, melanocytes have also been shown to be localized in internal sites such as the inner ear, brain, and heart, locations not stimulated by sunlight. Thus, what can the observation of extracutaneous melanocytes tell us about the “secret identity” of melanocytes? While the answers to some of these intriguing questions remain to be discovered, here we summarize and weave a thread around available data to explore the established and potential roles of melanocytes in the biological communication of skin and systemic homeostasis, and elaborate on important open issues and propose ways forward.

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Section: Earmentioning

confidence: 99%

Recognition of Melanocytes in Immuno-Neuroendocrinology and Circadian Rhythms: Beyond the Conventional Melanin Synthesis

Chen

Liu

Zhou

et al. 2022

Cells

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“…6,7 Auditory-pigmentary disorders are attributed to pathogenic variants in essential genes for differentiation and migration of melanocytes (Table S1). 8 The most common syndrome, Waardenburg syndrome (WS), is a neurocristopathy caused by migration defects of neural crest cells. WS is genetically and clinically heterogeneous.…”

Section: Introductionmentioning

confidence: 99%

Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss

Vona

Schwartzbaum

Rodriguez

et al. 2022

Acad Dermatol Venereol

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Background Pathogenic variants in KITLG, a crucial protein involved in pigmentation and neural crest cell migration, cause non-syndromic hearing loss, Waardenburg syndrome type 2, familial progressive hyperpigmentation and familial progressive hyper-and hypopigmentation, all of which are inherited in an autosomal dominant manner. Objectives To describe the genotypic and clinical spectrum of biallelic KITLG-variants. MethodsWe used a genotype-first approach through the GeneMatcher data sharing platform to collect individuals with biallelic KITLG variants and reviewed the literature for overlapping reports. ResultsWe describe the first case series with biallelic KITLG variants; we expand the known hypomelanosis spectrum to include a 'sock-and-glove-like', symmetric distribution, progressive repigmentation and generalized hypomelanosis. We speculate that KITLG biallelic loss-of-function variants cause generalized hypomelanosis, whilst variants with residual function lead to a variable auditory-pigmentary disorder mostly reminiscent of Waardenburg syndrome type 2 or piebaldism. ConclusionsWe provide consolidating evidence that biallelic KITLG variants cause a distinct auditory-pigmentary disorder. We evidence a significant clinical variability, similar to the one previously observed in KIT-related piebaldism.

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“…When occurring early in childhood and comprising a severe defect, it causes profound limitations for learning to speak and subsequent cognitive and psychosocial disorders. In the elderly, it affects the quality of life due to the isolation of the individual affected [ 1 ]. Congenital hearing loss is the most common form of sensory impairment in humans, with approximately 1/1000 infants being born with a severe hearing deficit [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population

2021

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Deafness is a total or partial hearing loss that may appear at any age and with different degrees of severity. Approximately 50% of hearing loss have a genetic origin, and among them, non-syndromic sensorineural deafness represents about 70% of the cases. From them, 80% correspond to autosomal recessive inheritance deafness. Autosomal recessive deafness was not studied enough at the molecular level in Iraq. This study aimed to verify the frequency of three GJB2 mutations in non-syndromic sensorineural deafness in the Iraqi population. The current case-control study was conducted from January 2018 to January 2020. The study included 95 deafness patients (55 males and 40 females) and 110 healthy control group. Age and sex were matched between the two groups. In order to detect c.35delG, 235delC, and 167delT mutations in the GJB2 gene, we employed the PCR-RFLP technique. The c.35delG was the main frequent mutation encountered with the GJB2 gene among patients with autosomal recessive non-syndromic sensorineural hearing loss. Among them, 35 (36.8%) were homozygous, 40 (42.1%) were heterozygous, and 20 (21.1%) were wild genotypes. The second-degree mutation in the GJB2 gene was c.235delC mutation, which from the 95 deaf patients, there were 20 (21.1%) with homozygous, 33 (34.7%) heterozygous, and 42 (44.2%) wild genotypes. None of the 95 deaf patients showed the c.167delT mutation, and no mutations appeared in the control group. Our data concluded that the GJB2 c.35delG and c.235delC gene mutations were the main cause of autosomal recessive non-syndromic sensorineural hearing loss in the Iraqi deaf population.

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Hereditary Hearing Impairment with Cutaneous Abnormalities

Cited by 3 publications

References 264 publications

Recognition of Melanocytes in Immuno-Neuroendocrinology and Circadian Rhythms: Beyond the Conventional Melanin Synthesis

Recognition of Melanocytes in Immuno-Neuroendocrinology and Circadian Rhythms: Beyond the Conventional Melanin Synthesis

Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss

Connexin 26 (GJB2) gene mutations linked with autosomal recessive non-syndromic sensor neural hearing loss in the Iraqi population

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