Linkage between the genes for Wolfram syndrome and brachydactyly E

Cosegregation of two genetic conditions in a family the authors encountered may aid in localization of the responsible genes. The first is the Wolfram or DIDMOAD syndrome (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), considered to be an autosomal recesive disorder (Fraser and Gunn, 1977). All manifestations are seldom seen in one patient; the key symptoms are juvenile-onset diabetes mellitus and optic atophy (Gunn et al, 1976). The second is brachydactyly E, in which patients have short metacarpals and short stature and which may occur as an autosomal dominant trait or as a component of several, especially endocrie, disorders; it has not been reported in the Wolfram syndorme (Temtamy and McKusick, 1969; McKusick, 1983).