Donohue syndrome (DS), a rare autosomal recessive disease which represents severe insulin resistance, pre- and postnatal growth retardation, hypertrichosis, and dysmorphic features, is caused by mutations in the insulin receptor (INSR) gene. In Aug 10, 2017, Litao Qin and others published an article in << Clinica Chimica Acta >> which title is “Novel heterozygous mutations of the INSR gene in a familial case of Donohue syndrome”, reported the clinical, molecular, and biochemical characterizations of a patient with DS and a case with 2 novel INSR mutations and the DS phenotype. Using next-generation sequencing (NGS). Their finding expanded the number of reported cases of this rare disease and the mutation spectrum of INSR mutation, suggesting that NGS is an accurate, rapid, and cost-effective method for the genetic diagnosis of this rare disease.
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