Witteveen-Kolk syndrome: The first patient from Turkey

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Ercoşkun P., Yüce Kahraman Ç.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.185, ss.617-619, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 185
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1002/ajmg.a.61950
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Applied Science & Technology Source, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.617-619
  • Anahtar Kelimeler: developmental delay, intellectual disability, malformed ears, SIN3A, Witteveen&#8211, Kolk syndrome, INTERSTITIAL DELETION
  • Atatürk Üniversitesi Adresli: Evet

Özet

Witteveen-Kolk syndrome is a rare genetic disorder characterized by intellectual disability, developmental delay and dysmorphic facial features including a long face with prominent forehead, depressed nasal bridge, long-smooth philtrum and malformed ears. Skeletal abnormalities, microcephaly and malformation of the brain are other findings. This syndrome is caused by mutations in the SIN3A gene or microdeletions encompassing this gene. The protein encoded by SIN3A gene plays a regulatory role in the control of various developmental processes, especially cortical expansion and maturation. To date, 17 patients have been reported in the medical literature. In this article, we reported a patient with Witteveen-Kolk syndrome who had a retrognathia as an unusually finding. To the best of our knowledge, this is the first patient of Witteveen-Kolk syndrome reported from Turkey.