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Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism

Congenital sensorineural hearing loss may occur in association with inborn pigmentary defects of the iris, hair, and skin. These conditions, named auditory-pigmentary disorders (APDs), represent extremely heterogeneous hereditary diseases, including Waardenburg syndromes, oculocutaneous albinism, Ti...

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Autores principales: Gironi, Laura Cristina, Colombo, Enrico, Brusco, Alfredo, Grosso, Enrico, Naretto, Valeria Giorgia, Guala, Andrea, Di Gregorio, Eleonora, Zonta, Andrea, Zottarelli, Francesca, Pasini, Barbara, Savoia, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6681376/
https://www.ncbi.nlm.nih.gov/pubmed/31284637
http://dx.doi.org/10.3390/medicina55070345
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author Gironi, Laura Cristina
Colombo, Enrico
Brusco, Alfredo
Grosso, Enrico
Naretto, Valeria Giorgia
Guala, Andrea
Di Gregorio, Eleonora
Zonta, Andrea
Zottarelli, Francesca
Pasini, Barbara
Savoia, Paola
author_facet Gironi, Laura Cristina
Colombo, Enrico
Brusco, Alfredo
Grosso, Enrico
Naretto, Valeria Giorgia
Guala, Andrea
Di Gregorio, Eleonora
Zonta, Andrea
Zottarelli, Francesca
Pasini, Barbara
Savoia, Paola
author_sort Gironi, Laura Cristina
collection PubMed
description Congenital sensorineural hearing loss may occur in association with inborn pigmentary defects of the iris, hair, and skin. These conditions, named auditory-pigmentary disorders (APDs), represent extremely heterogeneous hereditary diseases, including Waardenburg syndromes, oculocutaneous albinism, Tietz syndrome, and piebaldism. APDs are part of the neurocristopathies, a group of congenital multisystem disorders caused by an altered development of the neural crest cells, multipotent progenitors of a wide variety of different lineages, including those differentiating into peripheral nervous system glial cells and melanocytes. We report on clinical and genetic findings of two monozygotic twins from a large Albanian family who showed a complex phenotype featured by sensorineural congenital deafness, severe neuropsychiatric impairment, and inborn pigmentary defects of hair and skin. The genetic analyzes identified, in both probands, an unreported co-occurrence of a new heterozygous germline pathogenic variant (c.2484 + 5G > T splicing mutation) in the KIT gene, consistent with the diagnosis of piebaldism, and a heterozygous deletion at chromosome 15q13.3, responsible for the neuropsychiatric impairment. This case represents the first worldwide report of dual locus inherited syndrome in piebald patients affected by a complex auditory-pigmentary multisystem phenotype. Here we also synthesize the clinical and genetic findings of all known neurocristopathies characterized by a hypopigmentary congenital disorder.
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spelling pubmed-66813762019-08-09 Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism Gironi, Laura Cristina Colombo, Enrico Brusco, Alfredo Grosso, Enrico Naretto, Valeria Giorgia Guala, Andrea Di Gregorio, Eleonora Zonta, Andrea Zottarelli, Francesca Pasini, Barbara Savoia, Paola Medicina (Kaunas) Case Report Congenital sensorineural hearing loss may occur in association with inborn pigmentary defects of the iris, hair, and skin. These conditions, named auditory-pigmentary disorders (APDs), represent extremely heterogeneous hereditary diseases, including Waardenburg syndromes, oculocutaneous albinism, Tietz syndrome, and piebaldism. APDs are part of the neurocristopathies, a group of congenital multisystem disorders caused by an altered development of the neural crest cells, multipotent progenitors of a wide variety of different lineages, including those differentiating into peripheral nervous system glial cells and melanocytes. We report on clinical and genetic findings of two monozygotic twins from a large Albanian family who showed a complex phenotype featured by sensorineural congenital deafness, severe neuropsychiatric impairment, and inborn pigmentary defects of hair and skin. The genetic analyzes identified, in both probands, an unreported co-occurrence of a new heterozygous germline pathogenic variant (c.2484 + 5G > T splicing mutation) in the KIT gene, consistent with the diagnosis of piebaldism, and a heterozygous deletion at chromosome 15q13.3, responsible for the neuropsychiatric impairment. This case represents the first worldwide report of dual locus inherited syndrome in piebald patients affected by a complex auditory-pigmentary multisystem phenotype. Here we also synthesize the clinical and genetic findings of all known neurocristopathies characterized by a hypopigmentary congenital disorder. MDPI 2019-07-07 /pmc/articles/PMC6681376/ /pubmed/31284637 http://dx.doi.org/10.3390/medicina55070345 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Gironi, Laura Cristina
Colombo, Enrico
Brusco, Alfredo
Grosso, Enrico
Naretto, Valeria Giorgia
Guala, Andrea
Di Gregorio, Eleonora
Zonta, Andrea
Zottarelli, Francesca
Pasini, Barbara
Savoia, Paola
Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism
title Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism
title_full Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism
title_fullStr Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism
title_full_unstemmed Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism
title_short Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism
title_sort congenital sensorineural hearing loss and inborn pigmentary disorders: first report of multilocus syndrome in piebaldism
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6681376/
https://www.ncbi.nlm.nih.gov/pubmed/31284637
http://dx.doi.org/10.3390/medicina55070345
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