Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome

Autor: Desirée Deconte, Bruna Lixinski Diniz, Jéssica K. Hartmann, Mateus A. de Souza, Laira F. F. Zottis, Paulo Ricardo Gazzola Zen, Rafael F. M. Rosa, Marilu Fiegenbaum
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: International Journal of Molecular Sciences, Vol 25, Iss 14, p 7900 (2024)
Druh dokumentu: article
ISSN: 25147900
1422-0067
1661-6596
DOI: 10.3390/ijms25147900
Popis: KIAA0586 variants have been associated with a wide range of ciliopathies, mainly Joubert syndrome (JS, OMIM #616490) and short-rib thoracic dysplasia syndrome (SRTD, OMIM #616546). However, the hypothesis that this gene is involved with hydrolethalus syndrome (HSL, OMIM #614120) and orofaciodigital syndrome IV (OMIM #258860) has already been raised. Ciliopathies’ clinical features are often overlapped despite differing in phenotype severity. Besides KIAA0586, HYLS1 and KIF7 are also known for being causative of ciliopathies, indicating that all three genes may have similar or converging genomic pathways. Overall, the genotypic and phenotypic spectrum of ciliopathies becomes wider and conflicting while more and more new variants are added to this group of disorders’ molecular pot. In this case report we discuss the first Brazilian individual clinically diagnosed with hydrolethalus syndrome and molecular findings that demonstrate the role of KIAA0586 as a causative gene of a group of genetic disorders. Also, recent reports on individuals with intronic and exonic variants combined leading to ciliopathies support our patient’s molecular diagnosis. At the same time, we discuss variable expressivity and overlapping features in ciliopathies.
Databáze: Directory of Open Access Journals
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