Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: A novel finding in whole exome sequencing
Makaleler > Tam Makale · 2021
Yazarlar: Muhsin Özgür ÇOĞULU, Neda Mojarrab, Ozguc S. Simsir, Asude DURMAZ, Ayça AYKUT, Dilşah ÇOĞULU
Clinical Dysmorphology, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Scopus, 2021, cilt 30, ss 93-99
DOI: 10.1097/MCD.0000000000000363
Özet
Gingival fibromatosis with distinctive facies presents a rare clinical picture. It is characterized by gingival fibromatosis in conjunction with some craniofacial dysmorphic features such as relative macrocephaly, bushy eyebrows, synophrys, hypertelorism, downslanting palpebral fissures, flattened nasal bridge, hypoplastic nares, cupid-bow mouth and a high palate. Autosomal recessive inheritance has been suggested. However, to date, no causative gene has been reported. Herein, we report a case presenting with the typical findings of this rare genetic syndrome. A homozygous c.1855C>T (p.Gln619Ter) mutation in the PTPN14 gene was identified.