New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.
Mol Genet Genomic Med
; 7(9): e875, 2019 09.
Article
en En
| MEDLINE
| ID: mdl-31338985
ABSTRACT
BACKGROUND:
CMTX5 is characterized by peripheral neuropathy, early-onset sensorineural hearing impairment, and optic neuropathy. Only seven variants have been reported and no genotype-phenotype correlations have yet been established. PRPS1 has a crystallographic structure, as it is composed of three dimers that constitute a hexamer.METHODS:
Next-generation sequencing (NGS) was performed using a custom 92-gene panel designed for the diagnosis of Charcot-Marie-Tooth (CMT) and associated neuropathies.RESULTS:
We report the case of a 35-year-old male, who had presented CMT and hearing loss since childhood associated to bilateral optic neuropathy without any sign of retinitis pigmentosa. A new hemizygous variant on chromosomic position X106,882,604, in the PRPS1 gene, c.202A > T, p.(Met68Leu) was found. This change is predicted to lead to an altered affinity between the different subunits in the dimer, thereby may prevent the hexamer formation.CONCLUSION:
CMTX5 is probably under-diagnosed, as an overlap among the different features due to PRPS1 exists. Patients who developed polyneuropathy associated to sensorineural deafness and optic atrophy during childhood should be assessed for PRPS1.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Polineuropatías
/
Enfermedad de Charcot-Marie-Tooth
/
Atrofias Ópticas Hereditarias
/
Ribosa-Fosfato Pirofosfoquinasa
/
Dimerización
/
Trastornos Musculares Atróficos
/
Pérdida Auditiva Central
/
Pérdida Auditiva Sensorineural
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Mol Genet Genomic Med
Año:
2019
Tipo del documento:
Article
País de afiliación:
Francia