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.
Journal
Medicine
ISSN: 1536-5964
Titre abrégé: Medicine (Baltimore)
Pays: United States
ID NLM: 2985248R
Informations de publication
Date de publication:
Feb 2020
Feb 2020
Historique:
entrez:
22
2
2020
pubmed:
23
2
2020
medline:
10
3
2020
Statut:
ppublish
Résumé
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. Patients 1 and 2 were two Roma Gypsy siblings presenting thoracic dysplasia and a combination of oral cavity anomalies. 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. Patients were transferred to neonatal intensive care unit and received life-support treatment. Patients 1 and 2 died after few hours and 1 month of birth, respectively, because of respiratory failure related with the disease. 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.
Identifiants
pubmed: 32080096
doi: 10.1097/MD.0000000000019169
pii: 00005792-202002210-00026
pmc: PMC7034684
doi:
Substances chimiques
Cell Cycle Proteins
0
KIAA0586 protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e19169Références
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