Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.

Veronica MericqIsabel Huang-DoranDhekra Al-NaqebJaviera BasaureClaudia CastiglioniChristiaan de BruinYvonne HendriksEnrico BertiniFowzan S AlkurayaMonique LosekootKhalid Al-RubeaanRobert K SempleJan M Wit

Published in: European journal of endocrinology (2022)

Patients with SOFT syndrome can develop severe dyslipidaemic insulin resistance, independent of the exonic position of the POC1A variant. They also can develop severe muscle cramps. After diagnosis, patients should be regularly screened for insulin resistance and muscle complaints.

Keyphrases

insulin resistance
skeletal muscle
adipose tissue
high fat diet
metabolic syndrome
polycystic ovary syndrome
early onset
end stage renal disease
type diabetes
intellectual disability
chronic kidney disease
ejection fraction
prognostic factors
drug induced
gene expression
glycemic control
case report