A Case of Short Stature Caused by a Mutation in the <b><i>ACAN</i></b> Gene

Abstract

<b><i>Introduction:</i></b> Aggrecanopathies are rare disorders associated with idiopathic short stature. They are caused by pathogenic changes in the <i>ACAN</i> gene located on chromosome 15q26. In this study, we present a case of short stature caused by mutations in the <i>ACAN</i> gene. <b><i>Case Presentation:</i></b> A 3-year-3-month-old male patient was referred to us because of his short stature. Physical examination revealed proportional short stature, frontal bossing, macrocephaly, midface hypoplasia, ptosis in the right eye, and wide toes. When the patient was 6 years and 3 months old, his bone age was compatible with 7 years of age. The patient underwent clinical exome sequencing and a heterozygous nonsense c.1243G&#x3e;T, p.(Glu415*) pathogenic variant was detected in the <i>ACAN</i> gene. The same variant was found in his phenotypically similar father. Our patient is the second case with ptosis. <b><i>Discussion:</i></b> <i>ACAN</i> gene mutation should be considered in the differential diagnosis of patients with idiopathic short stature. The development and widespread use of next-generation sequencing technology has increased the diagnostic and treatment possibilities.