The Southern Medical Journal (SMJ) is the official, peer-reviewed journal of the Southern Medical Association. It has a multidisciplinary and inter-professional focus that covers a broad range of topics relevant to physicians and other healthcare specialists.

SMJ // Article

Original Article

Clinical Studies of a Large Family With WilsonS Disease

Authors: MICHAEL G. MELENDEZ, MD, DARRYL M. WILLIAMS, MD, BONNIE BATY, MS, GEORGE E. CARTWRIGHT, MD

Abstract

We have identified 11 individuals with Wilsons disease, members of five sibships within a larger family which was traced through seven generations. Of 206 other family members evaluated for Wilsons disease, none had abnormally low serum ceruloplasmin or copper levels and none had Wilsons disease. There were two documented instances of consanguinity, associated with two of the five affected sibships and four of the 11 affected individuals. The pattern of occurrence of Wilsons disease within the family is consistent with the hypothesis that the disorder is transmitted as an autosomal recessive characteristic. It is likely that the apparently high frequency of disease within the family can be explained solely by the founder effect.

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References