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أعرض في EDS

Syndromic Retinitis Pigmentosa: A 15-Patient Study.

التفاصيل البيبلوغرافية
العنوان: Syndromic Retinitis Pigmentosa: A 15-Patient Study.
المؤلفون: Holanda IP; Genética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil., Rim PHH; Ambulatório de Genética Ocular, Departamento de Oftalmologia e Otorrinolaringologia, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil., Rare Genomes Project Consortium; Serviço de Genética Molecular, Departamento de Medicina Laboratorial, Hospital Israelita Albert Einstein (HIAE), São Paulo 05652-900, SP, Brazil., Guaragna MS; Genética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil., Gil-da-Silva-Lopes VL; Genética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil., Steiner CE; Genética Médica e Medicina Genômica, Departamento de Medicina Translacional, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (Unicamp), Campinas 13083-888, SP, Brazil.
المصدر: Genes [Genes (Basel)] 2024 Apr 20; Vol. 15 (4). Date of Electronic Publication: 2024 Apr 20.
نوع المنشور: Research Support, Non-U.S. Gov't; Case Reports
اللغة: English
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Basel : MDPI
مواضيع طبية MeSH: Retinitis Pigmentosa*/genetics , Retinitis Pigmentosa*/pathology , Retinitis Pigmentosa*/diagnosis, Humans ; Male ; Female ; Adult ; Adolescent ; Child ; Young Adult ; Usher Syndromes/genetics ; Usher Syndromes/pathology ; Usher Syndromes/diagnosis ; Brazil/epidemiology ; Middle Aged ; High-Throughput Nucleotide Sequencing ; Bardet-Biedl Syndrome/genetics ; Mutation
مستخلص: Retinitis pigmentosa is a group of genetically determined retinal dystrophies characterized by primary photoreceptor apoptosis and can occur in isolated or syndromic conditions. This study reviewed the clinical data of 15 patients with syndromic retinitis pigmentosa from a Rare Disease Reference Center in Brazil and the results of their next-generation sequencing tests. Five males and ten females participated, with the mean ages for ocular disease onset, fundoscopic diagnosis, and molecular evaluation being 9, 19, and 29 years, respectively. Bardet-Biedl syndrome ( n = 5) and Usher syndrome ( n = 3) were the most frequent diagnoses, followed by other rare conditions. Among the patients, fourteen completed molecular studies, with three negative results and eleven revealing findings in known genes, including novel variants in MKKS (c.432_435del, p.Phe144Leufs*14), USH2A (c.(7301+1_7302-1)_(9369+1_9370-1)del), and CEP250 (c.5383dup, p.Glu1795Glyfs*13, and c.5050del, p.Asp1684Thrfs*9). Except for Kearn-Sayre, all presented an autosomal recessive inheritance pattern with 64% homozygosity results. The long gap between symptom onset and diagnosis highlights the diagnostic challenges faced by the patients. This study reaffirms the clinical heterogeneity of syndromic retinitis pigmentosa and underscores the pivotal role of molecular analysis in advancing our understanding of these diseases.
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فهرسة مساهمة: Keywords: Bardet–Biedl syndrome; Usher syndrome; genetic testing; molecular diagnoses; precision medicine; retinitis pigmentosa
تواريخ الأحداث: Date Created: 20240427 Date Completed: 20240427 Latest Revision: 20240611
رمز التحديث: 20240611
مُعرف محوري في PubMed: PMC11050127
DOI: 10.3390/genes15040516
PMID: 38674450
قاعدة البيانات: MEDLINE
الوصف
تدمد:2073-4425
DOI:10.3390/genes15040516