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

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Abstract: 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

Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Notes: Orphanet journal of rare diseases. - 17 (2022) , 97, ISSN: 1750-1172

Event: Veröffentlichung

(where): Freiburg

(who): Universität

(when): 2022

Creator: Rad, Aboulfazl
Najafi, Maryam
Suri, Fatemeh
Abedini, Soheila
Loum, Stephen
Karimiani, Ehsan Ghayoor
Daftarian, Narsis
Murphy, David
Doosti, Mohammad
Moghaddasi, Afrooz
Ahmadieh, Hamid
Sabbaghi, Hamideh
Rajati, Mohsen
Hashemi, Narges
Vona, Barbara
Schmidts, Miriam

DOI: 10.1186/s13023-022-02244-6

URN: urn:nbn:de:bsz:25-freidok-2256280

Rights: Kein Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:27 AM CEST

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Associated

Rad, Aboulfazl
Najafi, Maryam
Suri, Fatemeh
Abedini, Soheila
Loum, Stephen
Karimiani, Ehsan Ghayoor
Daftarian, Narsis
Murphy, David
Doosti, Mohammad
Moghaddasi, Afrooz
Ahmadieh, Hamid
Sabbaghi, Hamideh
Rajati, Mohsen
Hashemi, Narges
Vona, Barbara
Schmidts, Miriam
Universität

Time of origin

2022

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