Microdeletion of the entire IRF6 gene in a Subsaharian African's family with Van der Woude syndrome.
Clin Dysmorphol
; 29(1): 24-27, 2020 Jan.
Article
in En
| MEDLINE
| ID: mdl-30946036
ABSTRACT
Microdeletion of the entire interferon regulatory factory 6 (IRF 6) gene is a rare cause of Van der Woude syndrome (VDW) with only few cases reported in medical literature. Its occurrence in multiple affected members of a family is exceptional. The aim of this presentation was to describe a Central African family with typical VDW phenotype carrying an IRF6 gene deletion. Here we reported phenotype features of members of a Central African family with VDW syndrome consisting of labioalveolar cleft, depressions of the lower lip with labial fistulae (lip pits), submucosal clefts and cleft palate. Mutation analysis by means of multiplex ligation-dependent probe amplification and chromosomal microarray revealed a 374.070 kb, deletion encompassing the entire IRF6 gene in four affected family members. Microdeletion of the entire IRF6 gene causes the classical VDW syndrome phenotype.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pedigree
/
Abnormalities, Multiple
/
Family
/
Cleft Lip
/
Cleft Palate
/
Gene Deletion
/
Cysts
/
Interferon Regulatory Factors
/
Lip
Limits:
Child, preschool
/
Female
/
Humans
/
Male
Country/Region as subject:
Africa
Language:
En
Journal:
Clin Dysmorphol
Journal subject:
TERATOLOGIA
Year:
2020
Document type:
Article