Novel Findings in Floating-Harbor Syndrome and a Mini-Review of the Literature

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Ercoşkun P., Yuce-Kahraman C.

MOLECULAR SYNDROMOLOGY, cilt.12, sa.1, ss.52-56, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 12 Sayı: 1
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1159/000512050
  • Dergi Adı: MOLECULAR SYNDROMOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
  • Sayfa Sayıları: ss.52-56
  • Anahtar Kelimeler: Dystrophic toenails, Floating-Harbor syndrome, Nasolacrimal duct obstruction, Rubinstein-Taybi syndrome, SRCAP gene, SRCAP, MUTATIONS
  • Atatürk Üniversitesi Adresli: Evet

Özet

Floating-Harbor syndrome (FHS) is a rare autosomal dominant genetic disorder characterized by proportionate short stature with delayed bone maturation, lack of expressive language, and distinctive facial features including a large nose, long eyelashes, deeply set eyes, and triangular face. Mutations in the SRCAP gene cause truncated SNF2-related CREBBP activator protein (SRCAP) and lead to FHS. SRCAP is one of several proteins that act as coactivator for the CREB-binding protein which is associated with Rubinstein-Taybi syndrome (RSTS). This condition likely explains the phenotypic overlap between FHS and RSTS. Herein, we report on a patient with FHS who also had dystrophic toenails, preauricular skin tag, and nasolacrimal duct obstruction which is also defined in patients with RSTS. In summary, the fact that especially nasolacrimal duct obstruction has also been observed in RSTS reinforces the idea that this finding is one of the features of FHS. Assessment of the lacrimal system and examination of skin and nails should be suggested in patients with FHS.