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

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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.

Original languageEnglish
Article numbere19169
JournalMedicine (United States)
Volume99
Issue number8
DOIs
Publication statusPublished - 2020

Keywords

  • KIAA0586
  • oral cavity malformation
  • short-rib-polydactyly

ASJC Scopus subject areas

  • Medicine(all)

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