{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T16:57:21Z","timestamp":1761238641864,"version":"build-2065373602"},"reference-count":21,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2019,7,7]],"date-time":"2019-07-07T00:00:00Z","timestamp":1562457600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>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 &gt; 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.<\/jats:p>","DOI":"10.3390\/medicina55070345","type":"journal-article","created":{"date-parts":[[2019,7,8]],"date-time":"2019-07-08T03:01:31Z","timestamp":1562554891000},"page":"345","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism"],"prefix":"10.3390","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7298-4446","authenticated-orcid":false,"given":"Laura Cristina","family":"Gironi","sequence":"first","affiliation":[{"name":"Department of Health Sciences, Amedeo Avogadro University of Eastern Piedmont, 28100 Novara, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico","family":"Colombo","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine, Amedeo Avogadro University of Eastern Piedmont, 28100 Novara, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8318-7231","authenticated-orcid":false,"given":"Alfredo","family":"Brusco","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences, University of Turin, 10124 Torino, Italy"},{"name":"Medical Genetics Unit, Citt\u00e0 della Salute e della Scienza University Hospital, 10124 Torino, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico","family":"Grosso","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Citt\u00e0 della Salute e della Scienza University Hospital, 10124 Torino, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria Giorgia","family":"Naretto","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Citt\u00e0 della Salute e della Scienza University Hospital, 10124 Torino, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Guala","sequence":"additional","affiliation":[{"name":"Maternal Infant Department, Castelli Hospital, 28922 Verbania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eleonora","family":"Di Gregorio","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Citt\u00e0 della Salute e della Scienza University Hospital, 10124 Torino, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Zonta","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Citt\u00e0 della Salute e della Scienza University Hospital, 10124 Torino, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Zottarelli","sequence":"additional","affiliation":[{"name":"Department of Health Sciences, Amedeo Avogadro University of Eastern Piedmont, 28100 Novara, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Pasini","sequence":"additional","affiliation":[{"name":"Department of Medical Sciences, University of Turin, 10124 Torino, Italy"},{"name":"Medical Genetics Unit, Citt\u00e0 della Salute e della Scienza University Hospital, 10124 Torino, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1636-8411","authenticated-orcid":false,"given":"Paola","family":"Savoia","sequence":"additional","affiliation":[{"name":"Department of Health Sciences, Amedeo Avogadro University of Eastern Piedmont, 28100 Novara, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2019,7,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2247","DOI":"10.1242\/dev.091751","article-title":"The neural crest","volume":"140","author":"Mayor","year":"2013","journal-title":"Development"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"860","DOI":"10.1126\/science.1230717","article-title":"Tissue interactions in neural crest cell development and disease","volume":"341","author":"Takahashi","year":"2013","journal-title":"Science"},{"key":"ref_3","first-page":"1","article-title":"Overview of genetic auditory syndromes","volume":"6","author":"Smith","year":"1995","journal-title":"J. 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