A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor

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Population

Patients with X-linked mental retardation and epilepsy from a single family, and 1200 control X-chromosomes.

Comparison

Silent mutation in the renin receptor gene vs Wild-type renin receptor / 1200 control…

Design

Preclinical

Authors

Discussion

Hypothesis-generating for renin receptor variants in neurodevelopment; leaves open any human cognitive implications and warrants no practice change.

Population

Patients with X-linked mental retardation and epilepsy (OMIM no. 300423) from a single family, and 1200 control X-chromosomes.

Intervention

Silent mutation (c.321C>T, p.D107D) in the renin receptor gene (ATP6AP2)

Comparator

Wild-type renin receptor / 1200 control X-chromosomes

Outcome

Effect of the mutation on renin receptor mRNA splicing, protein expression, renin catalytic activity, and ERK1/2 activationsurrogate

A unique mutation in the renin receptor gene points to a novel role for the renin-angiotensin system in cognitive functions and brain development.

Ramser et al. (2005) studied this question.

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Hypothesis-generating for renin receptor variants in neurodevelopment; leaves open any human cognitive implications and warrants no practice change.