A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresis

Yavuz Sahin; Olcay Güngör; Akif Ayaz; Gülay Güngör; Bedia Sahin; Kursad Yaykasli; Serdar Ceylaner

doi:10.1016/j.braindev.2016.09.002

A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresis

Brain Dev. 2017 Feb;39(2):166-170. doi: 10.1016/j.braindev.2016.09.002. Epub 2016 Sep 15.

Authors

Yavuz Sahin¹, Olcay Güngör², Akif Ayaz³, Gülay Güngör⁴, Bedia Sahin⁵, Kursad Yaykasli⁶, Serdar Ceylaner⁷

Affiliations

¹ Department of Medical Genetics, Necip Fazıl City Hospital, Kahramanmaras, Turkey. Electronic address: mdysahin@gmail.com.
² Department of Pediatric Neurology, Necip Fazil City Hospital, Kahramanmaras, Turkey.
³ Department of Medical Genetics, Adana Research and Training Hospital, Adana, Turkey.
⁴ Department of Radiology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey.
⁵ Department of Ophthalmology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey.
⁶ Department of Medical Biology, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey.
⁷ Department of Medical Genetics, Intergen Laboratory, Ankara, Turkey.

PMID: 27640920
DOI: 10.1016/j.braindev.2016.09.002

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.

Keywords: Epilepsy; HCFP; HOXB1; Hereditary congenital facial paresis; Moebius.

Publication types

Case Reports

MeSH terms

Consanguinity
Diagnosis, Differential
Facial Paralysis / congenital*
Facial Paralysis / diagnostic imaging
Facial Paralysis / genetics
Facial Paralysis / metabolism
Family*
Genetic Predisposition to Disease*
Homeodomain Proteins / genetics*
Homozygote*
Humans
Mutation*
Turkey

Substances

HOXB1 homeodomain protein
Homeodomain Proteins

Supplementary concepts

Facial paresis, hereditary, congenital