A Case of Short Stature Caused by a Mutation in the ACAN Gene

KARATAŞ E., DEMİR M., ÖZÇELİK F., KARA L., Akyurek E., BERBER U., ...Daha Fazla

MOLECULAR SYNDROMOLOGY, cilt.14, sa.2, ss.123-128, 2023 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 14 Sayı: 2
  • Basım Tarihi: 2023
  • Doi Numarası: 10.1159/000526166
  • Dergi Adı: MOLECULAR SYNDROMOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
  • Sayfa Sayıları: ss.123-128
  • Anahtar Kelimeler: Short stature, Aggrecanopathies, ACAN, IDIOPATHIC SHORT STATURE, HETEROZYGOUS MUTATION, AGGRECAN GENE, HEIGHT
  • Erciyes Üniversitesi Adresli: Evet

Özet

Introduction: Aggrecanopathies are rare disorders associated with idiopathic short stature. They are caused by pathogenic changes in the ACAN gene located on chromosome 15q26. In this study, we present a case of short stature caused by mutations in the ACAN gene. Case Presentation: 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>T, p.(Glu415*) pathogenic variant was detected in the ACAN gene. The same variant was found in his phenotypically similar father. Our patient is the second case with ptosis. Discussion: ACAN 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.