English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Zendy Open

Presents the pdf analysis as premium feature

PDF Analysis

Insights

Presents the summarisation as premium feature

Summarisation

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the zaia usage as premium feature

ZAIA

Zendy Tools

Zendy Plus

Presents the access of premium content as premium feature

Premium Content

We ascertained three different families affected with oto-dental syndrome, a rare but severe autosomal-dominant craniofacial anomaly. All affected patients had the unique phenotype of grossly enlarged molar teeth (globodontia) segregating with a high-frequency sensorineural hearing loss. In addition, ocular coloboma segregated with disease in one family (oculo-oto-dental syndrome). A genome-wide scan was performed using the Affymetrix GeneChip10K 2.0 Array. Parametric linkage analysis gave a single LOD score peak of 3.9 identifying linkage to chromosome 11q13. Haplotype analysis revealed three obligatory recombination events defining a 4.8 Mb linked interval between  D11S1889  and SNP rs2077955. Higher resolution mapping and Southern blot analysis in each family identified overlapping hemizygous microdeletions. SNP expression analysis and real-time quantitative RT–PCR in patient lymphoblast cell lines excluded a positional effect on the flanking genes  ORAOV1 ,  PPFIA1  and  CTTN . The smallest 43 kb deletion resulted in the loss of only one gene,  FGF3 , which was also deleted in all other otodental families. These data suggest that  FGF3  haploinsufficiency is likely to be the cause of otodental syndrome. In addition, the Fas-associated death domain ( FADD ) gene was also deleted in the one family segregating ocular coloboma. Spatiotemporal  in situ  hybridization in zebrafish embryos established for the first time that  fadd  is expressed during eye development. We therefore propose that  FADD  haploinsufficiency is likely to be responsible for ocular coloboma in this family. This study therefore implicates  FGF3  and  FADD  in human craniofacial disease.

human molecular genetics

SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate  FGF3  in dental and inner-ear disease and  FADD  in ocular coloboma