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Single Gene Mutation Can Cause Diverse Conditions

Last Updated: May 06, 2009.

Separate mutations inhibiting the delivery of calcium or potassium to cells at different body sites resulted in a cascade of rare medical conditions in families, according to two case reports published in the May 7 issue of the New England Journal of Medicine.

WEDNESDAY, May 6 (HealthDay News) -- Separate mutations inhibiting the delivery of calcium or potassium to cells at different body sites resulted in a cascade of rare medical conditions in families, according to two case reports published in the May 7 issue of the New England Journal of Medicine.

In one case report, Capucine Picard, M.D., of the Assistance Publique-Hospitaux de Paris, and colleagues reported on three siblings with immune system conditions, including autoimmune hemolytic anemia, enlarged liver and spleen, thrombocytopenia, muscular hypotonia, and defective tooth enamel. Two of the patients, whose DNA was available for study, were found to have mutations in the stromal interaction molecule 1 exon 3 that prevented activation of the channel that delivers Ca2+, which is needed to activate lymphocytes in the immune system and strengthen tooth enamel.

In another case report, Detlef Bockenhauer, M.D., of the Great Ormond Street Hospital in London, and colleagues conducted genome linkage analysis in four children from two related families with what they termed EAST syndrome (epilepsy, ataxia, sensorineural deafness and tubulopathy). The analysis identified a mutation in the children's KCNJ10 gene, which activates a potassium channel that is expressed in the inner ear, brain, and kidneys.

"The EAST syndrome should be suspected in patients presenting with any cardinal signs or symptoms of epilepsy, ataxia, or sensorineural deafness, especially if a concurrent electrolyte disorder, such as hypokalemia or hypomagnesemia, is diagnosed," Bockenhauer and colleagues conclude.

Abstract - Picard
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Abstract - Brockenhauer
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