TY - JOUR
T1 - The splice c.1815G>A variant in KIAA0586 results in a phenotype bridging short-rib-polydactyly and oral-facial-digital syndrome
T2 - A case report and literature review
AU - Cocciadiferro, Dario
AU - Agolini, Emanuele
AU - Digilio, Maria Cristina
AU - Sinibaldi, Lorenzo
AU - Castori, Marco
AU - Silvestri, Evelina
AU - Dotta, Andrea
AU - Dallapiccola, Bruno
AU - Novelli, Antonio
N1 - Publisher Copyright:
© 2020 the Author(s). Published by Wolters Kluwer Health, Inc.
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
KW - KIAA0586
KW - oral cavity malformation
KW - short-rib-polydactyly
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U2 - 10.1097/MD.0000000000019169
DO - 10.1097/MD.0000000000019169
M3 - Review article
C2 - 32080096
AN - SCOPUS:85079748049
VL - 99
JO - Medicine; analytical reviews of general medicine, neurology, psychiatry, dermatology, and pediatries
JF - Medicine; analytical reviews of general medicine, neurology, psychiatry, dermatology, and pediatries
SN - 0025-7974
IS - 8
M1 - e19169
ER -