Facial paresis, hereditary congenital, 3
OMIM:614744Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
| Gene Symbol | HOXB1 |
|---|---|
| Reference transcript | NM_002144.3 |
| DNA Change | c.66C>G |
| A.A. Change | p.Tyr22* |
| Exon/Intron | exon 1 |
| Mutation Type | substitution |
| Reference | Vogel M, Velleuer E, Schmidt-Jiménez LF, Mayatepek E, Borkhardt A, Alawi M, Kutsche K, Kortüm F.
Homozygous HOXB1 loss-of-function mutation in a large family with hereditary congenital facial paresis. Am J Med Genet A. 2016 Jul;170(7):1813-9. doi: 10.1002/ajmg.a.37682. Epub 2016 May 4. |