Association of mutation in PTPN14 gene and gingival fibromatosis with distinctive facies: a novel finding in whole exome sequencing
Küçük Resim Yok
Tarih
2021
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Lippincott Williams & Wilkins
Erişim Hakkı
info:eu-repo/semantics/closedAccess
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.
Açıklama
Anahtar Kelimeler
dysmorphology, exome sequencing, gene, gingival fibromatosis, PTPN14
Kaynak
Clinical Dysmorphology
WoS Q Değeri
Q4
Scopus Q Değeri
Cilt
30
Sayı
2
