دورية أكاديمية
أعرض في EDS

Combined Presence in Heterozygosis of Two Variant Usher Syndrome Genes in Two Siblings Affected by Isolated Profound Age-Related Hearing Loss.

التفاصيل البيبلوغرافية
العنوان: Combined Presence in Heterozygosis of Two Variant Usher Syndrome Genes in Two Siblings Affected by Isolated Profound Age-Related Hearing Loss.
المؤلفون: Borgese N; Consiglio Nazionale delle Ricerche Neuroscience Institute, 20854 Vedano al Lambro, Italy., Guillén-Samander A; Bernhard Nocht Institute for Tropical Medicine, 20359 Hamburg, Germany., Colombo SF; Consiglio Nazionale delle Ricerche Neuroscience Institute, 20854 Vedano al Lambro, Italy.; NeuroMi Milan Center for Neuroscience, Milan, Italy., Mancassola G; Unit of Genomics for Human Disease Diagnosis, IRCCS Ospedale San Raffaele, 20132 Milan, Italy.; Laboratory of Clinical Molecular Genetics, IRCCS Ospedale San Raffaele, 20132 Milan, Italy., Di Berardino F; Audiology Unit, Department of Specialistic Surgical Sciences, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milano, 20122 Milan, Italy., Zanetti D; Audiology Unit, Department of Specialistic Surgical Sciences, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milano, 20122 Milan, Italy., Carrera P; Unit of Genomics for Human Disease Diagnosis, IRCCS Ospedale San Raffaele, 20132 Milan, Italy.; Laboratory of Clinical Molecular Genetics, IRCCS Ospedale San Raffaele, 20132 Milan, Italy.
المصدر: Biomedicines [Biomedicines] 2023 Sep 28; Vol. 11 (10). Date of Electronic Publication: 2023 Sep 28.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101691304 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9059 (Print) Linking ISSN: 22279059 NLM ISO Abbreviation: Biomedicines Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Basel, Switzerland : MDPI AG, [2013]-
مستخلص: Sensorineural age-related hearing loss affects a large proportion of the elderly population, and has both environmental and genetic causes. Notwithstanding increasing interest in this debilitating condition, the genetic risk factors remain largely unknown. Here, we report the case of two sisters affected by isolated profound sensorineural hearing loss after the age of seventy. Genomic DNA sequencing revealed that the siblings shared two monoallelic variants in two genes linked to Usher Syndrome ( USH genes), a recessive disorder of the ear and the retina: a rare pathogenic truncating variant in USH1G and a previously unreported missense variant in ADGRV1 . Structure predictions suggest a negative effect on protein stability of the latter variant, allowing its classification as likely pathogenic according to American College of Medical Genetics criteria. Thus, the presence in heterozygosis of two recessive alleles, which each cause syndromic deafness, may underlie digenic inheritance of the age-related non-syndromic hearing loss of the siblings, a hypothesis that is strengthened by the knowledge that the two genes are integrated in the same functional network, which underlies stereocilium development and organization. These results enlarge the spectrum and complexity of the phenotypic consequences of USH gene mutations beyond the simple Mendelian inheritance of classical Usher syndrome.
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فهرسة مساهمة: Keywords: ADGRV1; SANS; Usher gene network; haploinsufficiency; nonsyndromic deafness
تواريخ الأحداث: Date Created: 20231028 Latest Revision: 20231030
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC10604119
DOI: 10.3390/biomedicines11102657
PMID: 37893031
قاعدة البيانات: MEDLINE
الوصف
تدمد:2227-9059
DOI:10.3390/biomedicines11102657