Dentin dysplasia, type II linkage to chromosome 4q.

[dentin dysplasia]

Dentin dysplasia , type II (MIM *125420 ) is an autosomal dominant disorder of dentin development . Clinically the primary dentition appears opalescent , and radiographically the pulp chambers are obliterated , resembling dentinogenesis imperfecta . However , unlike dentinogenesis imperfecta , the permanent teeth in dentin dysplasia , type II are normal in color and , on radiographs , have a thistle-tube pulp chamber configuration with pulp stones . The similarity of the primary dentition phenotype suggested that the gene for dentin dysplasia , type II is allelic with the gene for dentinogenesis imperfecta , Shields type II (DGII ; MIM *125490 ), which has been localized to chromosome 4 q 13 -q 21 . Twenty -four members of a three generation family in which ten members are affected with dentin dysplasia , type II were genotyped for microsatellite alleles specific for the area of chromosome 4 q linked to DGII . Linkage was assessed by using the LINKAGE computer program , assuming autosomal dominant inheritance , a disease allele frequency of 0 .0001 , and complete penetrance . The maximum two -point LOD score (Zmax = 4 .2 at theta = 0 .0 ) was obtained with SPPI and D 4 S 2691 . Multipoint analysis gave a maximum LOD score of 4 .33 . The candidate region for dentin dysplasia , type II is approximately 14 .1 cM , includes SPPI , D 4 S 2691 , D 4 S 2690 , D 4 S 451 , and D 4 S 2456 , and overlaps the most likely location of the DGII locus . A candidate gene for DGII should also be considered a candidate gene for dentin dysplasia , type II .

Diseases
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Diseases presenting "the permanent teeth in dentin dysplasia" symptom

dentin dysplasia

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