Novel c.1505-1509dupCTGCC pathogenic variation in a male case with Christianson syndrome

YALÇINTEPE S., GÜRKAN H.

Clinical Dysmorphology, cilt.30, sa.1, ss.36-38, 2021 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 30 Sayı: 1
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1097/mcd.0000000000000358
  • Dergi Adı: Clinical Dysmorphology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.36-38
  • Anahtar Kelimeler: autistic-like behavior, developmental delay, drooling, epilepsy, lack of speech, microcephaly
  • Trakya Üniversitesi Adresli: Evet

Özet

Pathogenic variations in the SLC9A6 gene are associated with an X-linked disorder Christianson syndrome characterized by developmental delay, microcephaly, intellectual disability, autistic-like behavior and epilepsy. We identified a novel pathogenic variation in the SLC9A6 gene in a boy with developmental delay and microcephaly. Herein we report the clinical findings of the case diagnosed as Christianson syndrome; his mother was found to carry the same variant.