Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3.
Int J Mol Sci
; 25(1)2023 Dec 21.
Article
en En
| MEDLINE
| ID: mdl-38203298
ABSTRACT
The HOXB1 gene encodes a homeobox transcription factor pivotal in the development of rhombomere 4. Biallelic pathogenic variants in this gene are associated with congenital facial paresis type 3 (HCFP3). Only seven single nucleotide variants have been reported in the literature to date. Here, we report a 27-year-old female with a unique presentation of HCFP3 with two novel compound-heterozygous missense variants c.763C>G, p.(Arg255Gly), which arose de novo and an inherited c.781C>T, p.(Arg261Cys) variant. The patient exhibited HCFP3 symptoms with mild upward esodeviation and lacked the documented ear malformations common in HCFP. For many years, she was misdiagnosed with facio-scapulo-humeral muscular dystrophy, due to complaints of shoulder girdle and neck muscle weakness. No alternative genetic or acquired causes of neck and shoulder girdle weakness were found, suggesting its potential inclusion in the phenotypic spectrum.
Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Distrofia Muscular Facioescapulohumeral
/
Parálisis Facial
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
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Female
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Humans
Idioma:
En
Revista:
Int J Mol Sci
Año:
2023
Tipo del documento:
Article
País de afiliación:
Rusia