دورية أكاديمية
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.
العنوان: | Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome. |
---|---|
المؤلفون: | Rad A; Department of Otolaryngology, Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University, 72076, Tübingen, Germany., Najafi M; Genome Research Division, Human Genetics Department, Radboud University Medical Center, Geert Grooteplein Zuid 10, Nijmegen, The Netherlands.; Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Mathildenstrasse 1, 79106, Freiburg, Germany., Suri F; Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Abedini S; Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashad University of Medical Science, Mashad, Iran.; Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Loum S; Department of Otolaryngology, Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University, 72076, Tübingen, Germany., Karimiani EG; Department of Molecular Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Daftarian N; Ocular Tissue Engineering Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Murphy D; Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashad University of Medical Science, Mashad, Iran., Doosti M; Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Mathildenstrasse 1, 79106, Freiburg, Germany., Moghaddasi A; Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Ahmadieh H; Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Sabbaghi H; Ophthalmic Epidemiology Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Rajati M; Department of Otorhinolaryngology, School of Medicine, Ghaem Hospital, Sinus and Surgical Endoscopic Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Hashemi N; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Vona B; Department of Otolaryngology, Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University, 72076, Tübingen, Germany.; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEar Lab, University Medical Center Göttingen, Göttingen, Germany., Schmidts M; Genome Research Division, Human Genetics Department, Radboud University Medical Center, Geert Grooteplein Zuid 10, Nijmegen, The Netherlands. miriam.schmidts@uniklinik-freiburg.de.; Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University Faculty of Medicine, Mathildenstrasse 1, 79106, Freiburg, Germany. miriam.schmidts@uniklinik-freiburg.de.; CIBSS - Centre for Integrative Biological Signalling Studies, University of Freiburg, 79104, Freiburg, Germany. miriam.schmidts@uniklinik-freiburg.de. |
المصدر: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Mar 03; Vol. 17 (1), pp. 97. Date of Electronic Publication: 2022 Mar 03. |
نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
اللغة: | English |
بيانات الدورية: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
أسماء مطبوعة: | Original Publication: [London] : BioMed Central, 2006- |
مواضيع طبية MeSH: | Arthritis*/diagnosis , Arthritis*/genetics , Collagen Type IX*/genetics , Connective Tissue Diseases*/genetics , Connective Tissue Diseases*/pathology , Hearing Loss, Sensorineural*/genetics , Osteochondrodysplasias*/genetics , Retinal Detachment*/diagnosis , Retinal Detachment*/genetics , Retinal Detachment*/pathology, Genes, Recessive/genetics ; Humans ; Mutation/genetics ; Pedigree ; Phenotype |
مستخلص: | Background: Stickler syndrome (STL) is a rare, clinically and molecularly heterogeneous connective tissue disorder. Pathogenic variants occurring in a variety of genes cause STL, mainly inherited in an autosomal dominant fashion. Autosomal recessive STL is ultra-rare with only four families with biallelic COL9A3 variants reported to date. Results: Here, we report three unrelated families clinically diagnosed with STL carrying different novel biallelic loss of function variants in COL9A3. Further, we have collected COL9A3 genotype-phenotype associations from the literature. Conclusion: Our report substantially expands the molecular genetics and clinical basis of autosomal recessive STL and provides an overview about allelic COL9A3 disorders. (© 2022. The Author(s).) |
References: | Hum Genet. 2015 Apr;134(4):451-3. (PMID: 25663169) Am J Med Genet A. 2007 Feb 1;143A(3):258-64. (PMID: 17236192) Bioinformatics. 2010 Mar 1;26(5):589-95. (PMID: 20080505) Nature. 2020 May;581(7809):434-443. (PMID: 32461654) Eur J Hum Genet. 2021 May;29(5):881-886. (PMID: 33633367) Hum Mutat. 2019 Nov;40(11):1968-1984. (PMID: 31343797) Am J Med Genet A. 2010 Apr;152A(4):863-9. (PMID: 20358595) Clin Genet. 2014 Sep;86(3):282-6. (PMID: 23992033) J Med Genet. 2013 Nov;50(11):765-71. (PMID: 23922384) Mol Genet Genomic Med. 2020 Sep;8(9):e1354. (PMID: 32578940) Mol Genet Genomic Med. 2021 Mar;9(3):e1620. (PMID: 33570243) Am J Med Genet A. 2014 Jan;164A(1):42-7. (PMID: 24273071) Eur J Hum Genet. 2010 Aug;18(8):872-80. (PMID: 20179744) Nat Genet. 2016 Sep;48(9):1071-6. (PMID: 27428751) Am J Med Genet A. 2018 Dec;176(12):2887-2891. (PMID: 30450842) J Biol Chem. 1997 Aug 15;272(33):20650-4. (PMID: 9252382) Genet Med. 2003 Jan-Feb;5(1):21-7. (PMID: 12544472) Genome Res. 2010 Sep;20(9):1297-303. (PMID: 20644199) Gene. 2012 Dec 15;511(2):480-1. (PMID: 23026214) Clin Genet. 2019 Feb;95(2):325-328. (PMID: 30362103) Am J Med Genet A. 2004 Oct 1;130A(2):160-4. (PMID: 15372529) Curr Opin Cell Biol. 2008 Oct;20(5):495-501. (PMID: 18640274) J Med Genet. 2019 May;56(5):332-339. (PMID: 30487245) Am J Med Genet A. 2019 Aug;179(8):1498-1506. (PMID: 31090205) |
فهرسة مساهمة: | Keywords: Autosomal recessive Stickler syndrome; COL9A3; Collagen; Hearing loss; Retinal detachment |
المشرفين على المادة: | 0 (COL9A3 protein, human) 0 (Collagen Type IX) |
SCR Disease Name: | Stickler syndrome, type 1 |
تواريخ الأحداث: | Date Created: 20220304 Date Completed: 20220413 Latest Revision: 20220531 |
رمز التحديث: | 20240628 |
مُعرف محوري في PubMed: | PMC8892745 |
DOI: | 10.1186/s13023-022-02244-6 |
PMID: | 35241111 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1750-1172 |
---|---|
DOI: | 10.1186/s13023-022-02244-6 |