The TWIST2 mutation causes Setleis syndrome: A rare clinical case report
Clinical Dysmorphology, cilt.26, sa.2, ss.128-131, 2017 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 26 Sayı: 2
- Basım Tarihi: 2017
- Doi Numarası: 10.1097/mcd.0000000000000156
- Dergi Adı: Clinical Dysmorphology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.128-131
- Anahtar Kelimeler: focal facial dermal dysplasia, p.Leu109Pro, Setleis syndrome, TWIST2 gene
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
The focal facial dermal dysplasias are a group of inherited, rare disorders of facial development characterized by bitemporal or preauricular scar-like defects resembling 'forceps marks'. Four subtypes have been delineated, and the mutations in the TWIST2 gene have been identified in type-III focal facial dermal dysplasia, Setleis Syndrome (SS). We describe a boy with the hallmark bitemporal scarlike lesions (like forceps marks) and other characteristic clinical features of SS. Of those, coarse facial appearance with sparse lateral eyebrow and eyelashes, high-arched eyebrows, periorbital puffiness, downslanting palpebral fissure and poor vocalization were the main findings. Molecular genetic analysis of TWIST2 revealed a homozygous p.Leu109Pro (c.326T>C) mutation in the first exon of the gene. Heterozygous p.Leu109Pro mutation was also identified in his parents and his brother with milder dysmorphic facial features including prominent chin, long face, sparse eyebrows and eyelashes and other features like inguinal and umblical hernia. Molecular analysis of family members and a consanguineous marriage supported the autosomal recessive inheritance of SS in this family. This study indicated that heterozygous individuals carrying TWIST2 p.Leu109Pro mutation may also display some clinical features of SS at milder levels.