isolated congenital facial palsy with autosomal dominant pattern of inheritance: an step toward unraveling the genetic basis of inherited facial palsy

inherited facial palsy without involvement of other cranial nerves or facial and limb anomalies has been reported rarely in the literature. in the classic mobius syndrome, as a syndrome of rhombencephalic development, in addition to facial palsy, there are bilateral or unilateral abducens palsy, dysmorphic facial features, and limb anomalies. we found 11 patients with isolated facial palsy in four generations of a family. the patients underwent neurologic and dysmorphologic examination with special attention to detect any cranial nerve dysfunction, facial dysmorphic feature, and limb anomalies. the patients had isolated complete facial palsy, where eight patients had bilateral and three of them had unilateral facial palsy. according to four-generation pedigree of the family, the pattern of inheritance was compatible with autosomal dominant inheritance with incomplete penetrance. dna extracted from blood samples of 25 members of the family, among whom 11 were affected and 14 were unaffected. considering the relationship of these 25 members of the family, calculated elod score was 4.1 which meant that samples would be suitable for linkage study. possible involved region restricted to two loci with the microchip analysis and then affymetrix-5 snp array which readout 500,000 snps in a genome-wide base applied to detect mistypings. as the next step, we have started to confirm the region by microsatellite markers.