1. The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome: A case report and literature review.
- Author
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Cocciadiferro D, Agolini E, Digilio MC, Sinibaldi L, Castori M, Silvestri E, Dotta A, Dallapiccola B, and Novelli A
- Subjects
- Ciliopathies, Humans, Infant, Newborn, Italy, Male, Phenotype, Roma, Siblings, Cell Cycle Proteins genetics, Orofaciodigital Syndromes complications, Orofaciodigital Syndromes genetics, Short Rib-Polydactyly Syndrome complications, Short Rib-Polydactyly Syndrome genetics
- Abstract
Introduction: KIAA0586 variants have been associated to short-rib thoracic dysplasia, an autosomal recessive skeletal ciliopathy characterized by a narrow thorax, short limbs, and radiological skeletal abnormalities., Patient Concerns: Patients 1 and 2 were two Roma Gypsy siblings presenting thoracic dysplasia and a combination of oral cavity anomalies., Diagnosis: A custom NGS gene panel, including genes associated to skeletal ciliopathies, identified the homozygous KIAA0586 splicing variant c.1815G>A (p.Gln605Gln) in both siblings, confirming the clinical diagnosis of short-rib-polydactyly., Intervention: Patients were transferred to neonatal intensive care unit and received life-support treatment., Outcomes: Patients 1 and 2 died after few hours and 1 month of birth, respectively, because of respiratory failure related with the disease., Conclusion: We report two patients affected by short-rib polydactyly syndrome and overlapping phenotype with oral-facial-digital syndrome associated with the c.1815G>A variant in KIAA0586, suggesting a quite peculiar genotype-phenotype correlation.
- Published
- 2020
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