Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome

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dc.authorid0000-0003-1513-6149
dc.authorid0000-0001-6930-7148
dc.contributor.authorAksu Uzunhan, Tuğçe
dc.contributor.authorErtürk, Biray
dc.contributor.authorAydın, Kürşad
dc.contributor.authorAyaz, Akif
dc.contributor.authorAltunoğlu, Umut
dc.contributor.authorYarar, Murat Hakkı
dc.contributor.authorGezdirici, Alper
dc.contributor.authorİçağasıoğlu, Dilara Füsun
dc.contributor.authorGökpınar İli, Ezgi
dc.contributor.authorUyanık, Bülent
dc.contributor.authorEser, Metin
dc.contributor.authorKutbay, Yaşar Bekir
dc.contributor.authorTopçu, Yasemin
dc.contributor.authorKılıç, Betül
dc.contributor.authorBektaş, Gonca
dc.contributor.authorArduç Akçay, Ayfer
dc.contributor.authorEkici, Barış
dc.contributor.authorChousein, Amet
dc.contributor.authorAvcı, Şahin
dc.contributor.authorYüksel, Atıl
dc.contributor.authorKayserili, Hülya
dc.date.accessioned2023-01-06T08:12:06Z
dc.date.available2023-01-06T08:12:06Z
dc.date.issued2023
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı
dc.description.abstractObjective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert syndrome. We aim to describe a group of Joubert syndrome patients clinically and genetically emphasizing organ involvement. Methods: We retrospectively collected clinical information and molecular diagnosis data of 22 patients with Joubert syndrome from multiple facilities. Clinical exome or whole-exome sequencing were performed to identify causal variations in genes. Results: The most common variants were in the CPLANE1, CEP290, and TMEM67 genes, and other causative genes were AHI1, ARMC9, CEP41, CSPP1, HYLS1, KATNIP, KIAA0586, KIF7, RPGRIP1L, including some previously unreported variants in these genes. Multi-systemic organ involvement was observed in nine (40%) patients, with the eye being the most common, including Leber's congenital amaurosis, ptosis, and optic nerve coloboma. Portal hypertension and esophageal varices as liver and polycystic kidney disease and nephronophthisis as kidney involvement was encountered in our patients. The HYLS1 gene, which commonly causes hydrolethalus syndrome 1, was also associated with Joubert syndrome in one of our patients. A mild phenotype with hypophyseal hormone deficiencies without the classical molar tooth sign was observed with compound heterozygous and likely pathogenic variants not reported before in the KATNIP gene. Conclusion: Some rare variants that display prominent genetic heterogeneity with variable severity are first reported in our patients. In our study of 22 Joubert syndrome patients, CPLANE1 is the most affected gene, and Joubert syndrome as a ciliopathy is possible without a classical molar tooth sign, like in the KATNIP gene-affected patients.
dc.identifier.citationAksu Uzunhan, T., Ertürk, B., Aydın, K., Ayaz, A., Altunoğlu, U., Yarar, M. H. ... Kayserili, H. (2023). Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome. Clinical Neurology and Neurosurgery, 224. https://dx.doi.org/10.1016/j.clineuro.2022.107560
dc.identifier.doi10.1016/j.clineuro.2022.107560
dc.identifier.issn0303-8467
dc.identifier.issn1872-6968
dc.identifier.pmid36580738
dc.identifier.scopus2-s2.0-85144861812
dc.identifier.scopusqualityQ2
dc.identifier.urihttps://dx.doi.org/10.1016/j.clineuro.2022.107560
dc.identifier.urihttps://hdl.handle.net/20.500.12511/10254
dc.identifier.volume224
dc.identifier.wos000964534000001en_US
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorAydın, Kürşad
dc.institutionauthorAyaz, Akif
dc.institutionauthorTopçu, Yasemin
dc.institutionauthorKılıç, Betül
dc.language.isoen
dc.publisherElsevier B.V.
dc.relation.ispartofClinical Neurology and Neurosurgeryen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/embargoedAccess
dc.subjectARMC9
dc.subjectHYLS1
dc.subjectJoubert Syndrome
dc.subjectKATNIP
dc.subjectMolar Tooth Sign
dc.titleClinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome
dc.typeArticle

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