Mutations in CYB561 Causing a Novel Orthostatic Hypotension Syndrome.

ABSTRACT:

Rationale

Orthostatic hypotension is a common clinical problem, but the underlying mechanisms have not been fully delineated.

Objective

We describe 2 families, with 4 patients in total, experiencing severe life-threatening orthostatic hypotension because of a novel cause.

Methods and results

As in dopamine β-hydroxylase deficiency, concentrations of norepinephrine and epinephrine in the patients were low. Plasma dopamine β-hydroxylase activity, however, was normal, and the DBH gene had no mutations. Molecular genetic analysis was performed to determine the underlying genetic cause. Homozygosity mapping and exome and Sanger sequencing revealed pathogenic homozygous mutations in the gene encoding cytochrome b561 (CYB561); a missense variant c.262G>A, p.Gly

SUBMITTER: van den Berg MP 

PROVIDER: S-EPMC5924476 | biostudies-literature | 2018 Mar

REPOSITORIES: biostudies-literature