title: A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresis.
abstract: Hereditary congenital facial paresis (HCFP) is characterized by isolated dysfunction of the facial nerve (CN VII) due to congenital cranial dysinnervation disorders. HCFP has genetic heterogeneity and HOXB1 is the first identified gene. We report the clinical, radiologic and molecular investigations of three patients admitted for HCFP in a large consanguineous Turkish family. High-throughput sequencing and Sanger sequencing of all patients revealed a novel homozygous mutation p.Arg230Trp (c.688C>T) within the HOXB1 gene. The report of the mutation brings the total number of HOXB1 mutations identified in HCFP to four. The results of this study emphasize that in individuals with congenital facial palsy accompanied by hearing loss and dysmorphic facial features, HOXB1 mutation causing HCFP should be kept in mind.
authors.affiliation: Department of Medical Genetics, Necip Fazıl City Hospital, Kahramanmaras, Turkey. Electronic address: mdysahin@gmail.com.
authors.forename: Yavuz
authors.initials: Y
authors.lastname: Sahin
authors.affiliation: Department of Pediatric Neurology, Necip Fazil City Hospital, Kahramanmaras, Turkey.
authors.forename: Olcay
authors.initials: O
authors.lastname: Güngör
authors.affiliation: Department of Medical Genetics, Adana Research and Training Hospital, Adana, Turkey.
authors.forename: Akif
authors.initials: A
authors.lastname: Ayaz
authors.affiliation: Department of Radiology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey.
authors.forename: Gülay
authors.initials: G
authors.lastname: Güngör
authors.affiliation: Department of Ophthalmology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey.
authors.forename: Bedia
authors.initials: B
authors.lastname: Sahin
authors.affiliation: Department of Medical Biology, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey.
authors.forename: Kursad
authors.initials: K
authors.lastname: Yaykasli
authors.affiliation: Department of Medical Genetics, Intergen Laboratory, Ankara, Turkey.
authors.forename: Serdar
authors.initials: S
authors.lastname: Ceylaner
mesh_terms: D003241:Consanguinity; D003937:Diagnosis, Differential; D005158:Facial Paralysis / Q000151:congenital* / Q000000981:diagnostic imaging / Q000235:genetics / Q000378:metabolism; D005190:Family; D020022:Genetic Predisposition to Disease; D018398:Homeodomain Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D009154:Mutation; D014421:Turkey
chemical_list: C101121:HOXB1 homeodomain protein; D018398:Homeodomain Proteins
keywords: Epilepsy; HCFP; HOXB1; Hereditary congenital facial paresis; Moebius