Cosegregation of bipolar disorder and autosomal-dominant medullary cystic kidney disease in a large family

Am J Psychiatry. 2005 Oct;162(10):1972-4. doi: 10.1176/appi.ajp.162.10.1972.


Objective: The authors report a large family in which bipolar disorder appears to cosegregate with autosomal-dominant medullary cystic kidney disease.

Method: Information regarding diagnostic criteria for bipolar disorder and medullary cystic kidney disease were gathered from family members through formal research interviews, hospital admission records, imaging reports, and laboratory data.

Results: Of the seven members with medullary cystic kidney disease, five had bipolar I disorder, one had unipolar depression, and one had a hyperthymic phenotype. Information was not available on two members.

Conclusions: The cosegregation in this family suggests a close proximity between genes for the two disorders. The two known loci of medullary cystic kidney disease are in regions of chromosomes 1 and 16 that have been previously linked to bipolar disorder and schizophrenia. This family may be a useful resource for positional cloning of bipolar candidate genes.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Bipolar Disorder / epidemiology
  • Bipolar Disorder / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1 / genetics
  • Chromosomes, Human, Pair 16 / genetics
  • Comorbidity
  • Female
  • Genetic Linkage
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Models, Genetic
  • Pedigree
  • Phenotype
  • Polycystic Kidney, Autosomal Dominant / epidemiology
  • Polycystic Kidney, Autosomal Dominant / genetics*


  • Genetic Markers