Can neurodevelopmental disorders be part of brain-lung-thyroid syndrome? A case report
Psychiatric Genetics, ss.1-2, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Basım Tarihi: 2026
- Doi Numarası: 10.1097/ypg.0000000000000428
- Dergi Adı: Psychiatric Genetics
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, EMBASE, MEDLINE, Psycinfo
- Sayfa Sayıları: ss.1-2
- Anahtar Kelimeler: articulation disorder, brain-lung-thyroid syndrome, neurodevelopmental disorders
- Karadeniz Teknik Üniversitesi Adresli: Evet
Özet
Mutations in the NKX2-1 gene cause a syndromic disorder affecting the brain, thyroid, and lungs. There are few case reports in the literature discussing the association between NKX2-1 gene mutation and neurodevelopmental disorders. In this case report, a 12-year-old girl with an NKX2-1 gene mutation, articulation disorder, and specific learning disorder is presented. This report discusses the potential neurodevelopmental risks associated with NKX2-1 mutations. Future research may further clarify the potential co-occurrence of these conditions, contributing to a more comprehensive understanding of the syndrome’s components.