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

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...

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Bibliographic Details
Published in:	International journal of molecular sciences Vol. 25; no. 14; p. 7900
Main Authors:	Deconte, Desirée, Diniz, Bruna Lixinski, Hartmann, Jéssica K, de Souza, Mateus A, Zottis, Laira F F, Zen, Paulo Ricardo Gazzola, Rosa, Rafael F M, Fiegenbaum, Marilu
Format:	Journal Article
Language:	English
Published:	Switzerland MDPI AG 01-07-2024
Subjects:	Anencephaly Cellular signal transduction Chromosomes ciliopathies Embryonic development Genes Genotype & phenotype hydrolethalus syndrome Hypotheses inheritance KIAA0586 Magnetic resonance imaging Mutation pathogenic variant Signal transduction Ultrasonic imaging Uterus variable expressivity Brazil inheritance hydrolethalus syndrome pathogenic variant KIAA0586 ciliopathies variable expressivity
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Summary:	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 , and 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 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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	1422-0067 1661-6596 1422-0067
DOI:	10.3390/ijms25147900