دورية أكاديمية
أعرض في EDS

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.

التفاصيل البيبلوغرافية
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).)
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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
الوصف
تدمد:1750-1172
DOI:10.1186/s13023-022-02244-6