Short Case ReportsAssociation of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencingCogulu, Ozgura; Mojarrab, Nedab; Simsir, Ozguc S.a; Durmaz, Asudec; Aykut, Aycac; Cogulu, DilsahbAuthor Information aDepartment of Pediatrics bDepartment of Pedodontics, Faculty of Dentistry cMedical Genetics, Ege University, Medical Faculty Hospital, Izmir, Turkey Received 26 November 2019 Accepted 8 December 2020 Correspondence to Ozguc Semih Simsir, MD, Department of Pediatrics, Ege University, Izmir, Turkey, Tel: +90 539 911 92 84; e-mail: [email protected] Clinical Dysmorphology: April 2021 - Volume 30 - Issue 2 - p 93-99 doi: 10.1097/MCD.0000000000000363 Buy Metrics Abstract 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. Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.