Two familie from New England with uher yndrome type IC with ditinct haplotype

PURPOE: To earch for patient with Uher yndrome type IC among thoe with Uher yndrome type I who reide in New England. METHOD: Genotype analyi of microatellite marker cloely linked to the UH1C locu wa done uing the polymerae chain reaction. We compared the haplotype of our patient who were homozygou in the UH1C region with the haplotype found in previouly reported UH1C Acadian familie who reide in outhwetern Louiiana and from a ingle family reiding in Lebanon. REULT: Of 46 unrelated cae of Uher yndrome type I reiding in New England, two were homozygou at genetic marker in the UH1C region. Of thee, one carried the Acadian UH1C haplotype and had Acadian ancetor (that i, from Nova cotia) who did not participate in the 1755 migration of Acadian to Louiiana. The econd family had a haplotype that proved to be the ame a that of a family with UH1C reiding in Lebanon. Each of the two familie had haplotype ditinct from the other. CONCLUION: Thi i the firt report that ome patient reiding in New England have Uher yndrome type IC. Patient with Uher yndrome type IC can have the Acadian haplotype or the Lebanee haplotype compatible with the idea that at leat two independently ariing pathogenic mutation have occurred in the yet-to-be identified UH1C gene.