FBLN5-Related Cutis Laxa Syndrome: A Case with a Novel Variant and Review of the Literature

Tekmenuray-Unal A., Durmaz C. D.

MOLECULAR SYNDROMOLOGY, cilt.14, sa.1, ss.80-88, 2023 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 14 Sayı: 1
  • Basım Tarihi: 2023
  • Doi Numarası: 10.1159/000525215
  • Dergi Adı: MOLECULAR SYNDROMOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
  • Sayfa Sayıları: ss.80-88
  • Anahtar Kelimeler: FBLN5, Cutis laxa, Autosomal recessive form, ARCL1A, Novel variant, MISSENSE MUTATION, FIBULIN-5, ALDH18A1, TISSUE, GENE
  • Hacettepe Üniversitesi Adresli: Hayır

Özet

Introduction: FBLN5-related cutis laxa is a very rare, autosomal recessive syndrome that is characterized by loose, wrinkled, and redundant skin, sagging cheeks, emphysema, aortic or pulmonary artery abnormalities, inguinal hernia, and diverticula of the gastrointestinal and urinary tract. Case Presentation: In this study, we report an 8-year-old Turkish girl with a novel homozygous missense variant in the FBLN5 gene, c.862G>T, p.(Asp288Tyr). Her unaffected parents were carriers of the same variant. The patient had loose skin, short stature, broad eyebrows, large ears, inguinal hernia, frequent respiratory tract infections, a history of peripheral pulmonary artery stenosis, and fourth finger contractures on both hands. Discussion: To our knowledge, 8 families have been reported to date, and this family is the third Turkish family with FBLN5-related cutis laxa. In addition to the classical findings of cutis laxa, the patient had fourth finger contractures on both hands. This report contributes to the ongoing clinical and genetic characterization of FBLN5-related cutis laxa.