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Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia.
Micale L, Morlino S, Schirizzi A, Agolini E, Nardella G, Fusco C, Castellana S, Guarnieri V, Villa R, Bedeschi MF, Grammatico P, Novelli A, Castori M. Micale L, et al. Genes (Basel). 2020 Dec 17;11(12):1513. doi: 10.3390/genes11121513. Genes (Basel). 2020. PMID: 33348901 Free PMC article.
We report four previously unpublished intronic variants in COL11A1 (c.2241 + 5G>T, c.2809 - 2A>G, c.3168 + 5G>C) and COL11A2 (c.4392 + 1G>A) identified in type 2 SS/OSMED individuals. The pathogenic effect of these variants was first predicted in silico and the …
We report four previously unpublished intronic variants in COL11A1 (c.2241 + 5G>T, c.2809 - 2A>G, c.3168 + 5G>C) and COL11A2 (c.439 …
Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.
Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L. Melkoniemi M, et al. Am J Hum Genet. 2000 Feb;66(2):368-77. doi: 10.1086/302750. Am J Hum Genet. 2000. PMID: 10677296 Free PMC article.
Individuals from three other families, in whom parents were nonconsanguineous, were compound heterozygous. Of the 10 identified mutations, 9 are predicted to cause premature termination of translation, and 1 is predicted to cause an in-frame deletion. We conclude th …
Individuals from three other families, in whom parents were nonconsanguineous, were compound heterozygous. Of the 10 identified mutations, 9 …
Novel mutations confirm that COL11A2 is responsible for autosomal recessive non-syndromic hearing loss DFNB53.
Chakchouk I, Grati M, Bademci G, Bensaid M, Ma Q, Chakroun A, Foster J 2nd, Yan D, Duman D, Diaz-Horta O, Ghorbel A, Mittal R, Farooq A, Tekin M, Masmoudi S, Liu XZ. Chakchouk I, et al. Mol Genet Genomics. 2015 Aug;290(4):1327-34. doi: 10.1007/s00438-015-0995-9. Epub 2015 Jan 30. Mol Genet Genomics. 2015. PMID: 25633957 Free PMC article.
All homozygous individuals in those families had early onset profound hearing loss across all frequencies without syndromic findings. The variants are predicted to be damaging the protein function. The p.Pro888Thr mutation affects a -Gly-X-Y- triplet repeat motif. ...
All homozygous individuals in those families had early onset profound hearing loss across all frequencies without syndromic findings. The va …