Haploinsufficiency of the gene Quaking (QKI) is associated with the 6q terminal deletion syndrome.
Subtelomeric rearrangements involving chromosome 6q have been reported in a limited number of studies. Although the sizes are very variable, ranging from cytogenetically visible deletions to small submicroscopic deletions, a common recognizable phenotype associated with a 6q deletion could be distilled. The main characteristics are intellectual disabilities, hypotonia, seizures, brain anomalies, and specific dysmorphic features including short neck, broad nose with bulbous tip, large and low-set ears and downturned corners of the mouth. In this article we report on a female patient, carrying a reciprocal balanced translocation t(5;6)(q23.1;q26), presenting with a clinical phenotype highly similar to the common 6q- phenotype. Breakpoint analysis using array painting revealed that the Quaking (QKI) gene that maps in 6q26 is disrupted, suggesting that haploinsufficiency of this gene plays a role in the 6q- clinical phenotype.
Backx
Liesbeth
L
Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.
Fryns
Jean-Pierre
JP
Marcelis
Carlo
C
Devriendt
Koen
K
Vermeesch
Joris
J
Van Esch
Hilde
H
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D055028:Comparative Genomic Hybridization; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D016601:RNA-Binding Proteins / Q000235:genetics*; D013577:Syndrome; D014178:Translocation, Genetic
C490832:QKI protein, human; D016601:RNA-Binding Proteins