تقرير
Syndromic Retinitis Pigmentosa: A 15-Patient Study.
العنوان: | Syndromic Retinitis Pigmentosa: A 15-Patient Study. |
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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. |
References: | Hear Res. 2002 Jan;163(1-2):1-11. (PMID: 11788194) Genet Med. 2020 Feb;22(2):245-257. (PMID: 31690835) Curr Opin Genet Dev. 2019 Jun;56:15-21. (PMID: 31201996) Hum Mutat. 2019 Aug;40(8):1039-1045. (PMID: 30998843) Prog Retin Eye Res. 2018 Sep;66:157-186. (PMID: 29597005) Science. 1998 Jun 12;280(5370):1753-7. (PMID: 9624053) Nat Genet. 2006 May;38(5):521-4. (PMID: 16582908) J Med Genet. 2012 Aug;49(8):502-12. (PMID: 22773737) Int J Equity Health. 2023 Jan 13;22(1):11. (PMID: 36639662) Arq Bras Oftalmol. 2021 Jul-Aug;84(4):367-373. (PMID: 33567042) Prog Retin Eye Res. 2018 Mar;63:107-131. (PMID: 29097191) Hum Mutat. 2011 Jun;32(6):610-9. (PMID: 21344540) Hum Genet. 2022 Apr;141(3-4):709-735. (PMID: 35353227) Cold Spring Harb Perspect Biol. 2017 Oct 3;9(10):. (PMID: 28289063) J Pediatr (Rio J). 2004 Nov-Dec;80(6):511-6. (PMID: 15622429) Am J Hum Genet. 2009 Apr;84(4):524-33. (PMID: 19344873) Ophthalmic Genet. 2023 Dec 11;:1-6. (PMID: 38078364) Nat Genet. 2000 Sep;26(1):67-70. (PMID: 10973251) Exp Eye Res. 2014 May;122:9-12. (PMID: 24607488) Mol Syndromol. 2016 May;7(2):62-71. (PMID: 27385962) Am J Med Genet A. 2010 Oct;152A(10):2666-9. (PMID: 20827784) Hum Genet. 2022 Nov;141(11):1723-1738. (PMID: 35226187) Int J Gen Med. 2014 Jul 03;7:325-32. (PMID: 25061332) Genet Mol Biol. 2019 Jul-Sep;42(3):495-508. (PMID: 31188926) Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4413-8. (PMID: 17360538) Eur J Hum Genet. 2002 Jun;10(6):339-50. (PMID: 12080385) Int J Mol Epidemiol Genet. 2014 Feb 17;5(1):11-21. (PMID: 24596593) J Med Genet. 2012 Jan;49(1):27-36. (PMID: 22135276) Hum Mol Genet. 2020 Jul 21;29(11):1882-1899. (PMID: 31998945) Sci Rep. 2018 Oct 29;8(1):15939. (PMID: 30374144) Diagnostics (Basel). 2020 Oct 02;10(10):. (PMID: 33023209) J Clin Invest. 2009 Mar;119(3):428-37. (PMID: 19252258) Genet Med. 2015 May;17(5):405-24. (PMID: 25741868) J Med Genet. 1999 Jun;36(6):437-46. (PMID: 10874630) Am J Hum Genet. 2016 Aug 4;99(2):318-36. (PMID: 27486776) Front Mol Biosci. 2022 May 02;9:821582. (PMID: 35586190) Am J Hum Genet. 2001 Jul;69(1):228-34. (PMID: 11402400) Ophthalmic Genet. 2018 Aug;39(4):500-507. (PMID: 29718797) Nat Genet. 2002 Aug;31(4):435-8. (PMID: 12118255) Invest Ophthalmol Vis Sci. 2011 Jul 18;52(8):5317-24. (PMID: 21642631) Eye (Lond). 2010 Apr;24(4):507-18. (PMID: 19798114) Clin Genet. 2021 Feb;99(2):226-235. (PMID: 33089500) Zhonghua Yan Ke Za Zhi. 2022 Oct 11;58(10):788-792. (PMID: 36220650) Genet Med. 2020 Feb;22(2):336-344. (PMID: 31534211) Am J Hum Genet. 2016 Oct 6;99(4):877-885. (PMID: 27666373) Nat Genet. 2019 Jul;51(7):1092-1098. (PMID: 31209396) Proc Natl Acad Sci U S A. 2007 Dec 4;104(49):19422-7. (PMID: 18032602) Nat Genet. 2000 Sep;26(1):56-60. (PMID: 10973248) Surv Ophthalmol. 2006 Jan-Feb;51(1):1-17. (PMID: 16414358) Balkan J Med Genet. 2011 Dec;14(2):77-88. (PMID: 24052715) Am J Hum Genet. 1980 Mar;32(2):223-35. (PMID: 7386458) Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):3827-3835. (PMID: 30073356) Int J Mol Sci. 2021 Jun 23;22(13):. (PMID: 34201633) Clin Ophthalmol. 2022 Jun 20;16:1993-2010. (PMID: 35757022) |
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 |
تدمد: | 2073-4425 |
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DOI: | 10.3390/genes15040516 |