Four new families with XXXX with auditory features: clinical description and linkage to chromosome 10q24.

@entity410 @entity1650 @entity1109 @entity1315 @entity63495 @entity302 @entity3762
PURPOSE: @entity63495 ( @entity63495 ) is a rare form of nonprogressive lateral @entity1315 characterized by partial @entity410 with @entity1650 . The gene predisposing to this syndrome was localized to a 10-cM region on chromosome 10q24. We assessed clinical features and linkage evidence in four newly ascertained families with @entity63495 , to refine the clinical phenotype and confirm the genetic localization. METHODS: We genotyped 41 individuals at seven microsatellite markers spanning the previously defined 10-cM minimal genetic region. We conducted two-point linkage analysis with the ANALYZE computer package, and multipoint parametric and nonparametric linkage analyses as implemented in GENEHUNTER2. RESULTS: In the four families, the number of individuals with @entity3762 ranged from three to nine. @entity302 was focal in all of those with @entity3762 who could be classified. The proportion with auditory symptoms ranged from 67 to 100%. Other @entity1109 also were reported; of these, sensory symptoms were most common. Linkage analysis showed a maximum 2-point LOD score of 1.86 at (theta=0.0 for marker D10S603, and a maximum multipoint LOD score of 2.93. CONCLUSIONS: These findings provide strong confirmation of linkage of a gene causing @entity63495 to chromosome 10q24. The results suggest that the susceptibility gene has a differential effect on the lateral temporal lobe, thereby producing the characteristic clinical features described here. Molecular studies aimed at the identification of the causative gene are underway.
