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Zusammenfassung:
Key points
* Acropectorovertebral dysgenesis, also called F syndrome, is a unique skeletal malformation syndrome, originally described in a four generation American family of European origin. The dominantly inherited disorder is characterised by carpal and tarsal synostoses, syndactyly between the first and the second fingers, hypodactyly and polydactyly of feet, and abnormalities of the sternum and spine.
* We have mapped F syndrome in the original family and were able to localise the gene for F syndrome to a 6.5 cM region on chromosome 2q36 with a maximum lod score of 4.21 for marker D2S2250. The region contains a number of genes expressed during limb development such as IHH, WNT6a, WNT10a, PAX3, and STK36. Genomic sequencing of these genes showed no mutation.
* This region harbours two further limb malformation phenotypes, namely syndactyly type I and the mouse mutant doublefoot (Dbf), of which both show overlapping features with F syndrome.
* Our results indicate that F syndrome is clinically and genetically distinct from a previously published acropectoral syndrome located on 7q36.
