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1984 ; 18
(1
): 61-5
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Linkage analysis in a large kindred with autosomal dominant transmission of
polyglandular autoimmune disease type II (Schmidt syndrome)
#MMPMID6588752
Butler MG
; Hodes ME
; Conneally PM
; Biegel AA
; Wright JC
Am J Med Genet
1984[May]; 18
(1
): 61-5
PMID6588752
show ga
Schmidt syndrome (PGA syndrome type II) is a rare condition characterized by
polyglandular failure. It is an autosomal dominant trait with variable
expressivity that was inherited over four generations in an the Indiana kindred.
Association of HLA-B8 has been reported with Schmidt syndrome. Our proband is a
12-year-old boy with Addison disease, insulin dependent diabetes mellitus (IDDM),
and vitiligo. Two of his eight sibs had either IDDM (sister) or vitiligo and
hyperthyroidism (brother). His mother had hypothyroidism. Seven members of
earlier generations apparently were also affected. We obtained peripheral blood
for HLA and genetic analysis from 21 relatives in a family with 8 Schmidt
syndrome individuals in three generations. HLA studies on 15 affected and
unaffected relatives showed only 2 of 7 persons with B8-containing haplotypes.
Therefore, no association exists between the B8-containing haplotype and the
syndrome. We identified informative marker loci. No evidence for linkage of the
Schmidt locus to any of the 14 markers was found and close linkage to esterase D
and adenylate kinase and possibly properdin factor B was excluded.