Open AccessThe splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome
Author(s) -
Dario Cocciadiferro,
Emanuele Agolini,
María Cristina Digilio,
Lorenzo Sinibaldi,
Marco Castori,
Evelina Silvestri,
Andrea Dotta,
Bruno Dallapiccola,
Antonio Novelli
Publication year - 2020
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000019169
Subject(s) - medicine , polydactyly , ciliopathies , ciliopathy , phenotype , dysplasia , pathology , anatomy , genetics , gene , biology
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.