Novel c.1505-1509dupCTGCC pathogenic variation in a male case with Christianson syndrome
Clinical Dysmorphology, cilt.30, sa.1, ss.36-38, 2021 (SCI-Expanded, Scopus)
- 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.