The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review

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Karamık G., Tüysüz B., Isik E., Yilmaz A., Alanay Y., Sunamak E. C., ...Daha Fazla

American Journal of Medical Genetics, Part A, cilt.191, sa.7, ss.1814-1825, 2023 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 191 Sayı: 7
  • Basım Tarihi: 2023
  • Doi Numarası: 10.1002/ajmg.a.63207
  • 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.1814-1825
  • Anahtar Kelimeler: 17q21, 31 microdeletion syndrome, KdVS, Koolen-de Vries syndrome, molecular karyotyping
  • Akdeniz Üniversitesi Adresli: Evet

Özet

Koolen-de Vries syndrome (KdVS) is a rare multisystemic disorder caused by a microdeletion on chromosome 17q21.31 including KANSL1 gene or intragenic pathogenic variants in KANSL1 gene. Here, we describe the clinical and genetic spectrum of eight Turkish children with KdVS due to a de novo 17q21.31 deletion, and report on several rare/new conditions. Eight patients from unrelated families aged between 17 months and 19 years enrolled in this study. All patients evaluated by a clinical geneticist, and the clinical diagnosis were confirmed by molecular karyotyping. KdVS patients had some common distinctive facial features. All patients had neuromotor retardation, and speech and language delay. Epilepsy, structural brain anomalies, ocular, ectodermal, and musculoskeletal findings, and friendly personality were remarkable in more than half of the patients. Hypertension, hypothyroidism, celiac disease, and postaxial polydactyly were among the rare/new conditions. Our study contributes to the clinical spectrum of patients with KdVS, while also provide a review by comparing them with previous cohort studies.