Article
Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.
Human molecular genetics - 15 Jan 2018
Ryan Rebecca, Failler Marion, Reilly Madeline Louise, Garfa-Traore Meriem, Delous Marion, Filhol Emilie, Reboul Thérèse, Bole-Feysot Christine, Nitschké Patrick, Baudouin Véronique, Amselem Serge, Escudier Estelle, Legendre Marie, Benmerah Alexandre, Saunier Sophie
Abstract excerpt
A child presenting with Mainzer-Saldino syndrome (MZSDS), characterized by renal, retinal and skeletal involvements, was also diagnosed with lung infections and airway ciliary dyskinesia. These manifestations suggested dysfunction of both primary and motile cilia, respectively. Targeted exome sequencing identified biallelic mutations in WDR19, encoding an IFT-A subunit previously associated with MZSDS-related...
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