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A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum.
Colona, Vito Luigi; Bertini, Enrico; Digilio, Maria Cristina; D'Amico, Adele; Novelli, Antonio; Pro, Stefano; Pisaneschi, Elisa; Nicita, Francesco.
Afiliación
  • Colona VL; Department of Biomedicine and Prevention, Tor Vergata University of Rome, 00133 Rome, Italy.
  • Bertini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Digilio MC; Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • D'Amico A; Genetics and Rare Disease Research Division, Bambino Gesù Children Hospital, IRCCS, 00165 Rome, Italy.
  • Novelli A; Medical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, 00165 Rome, Italy.
  • Pro S; Unit of Neuromuscular and Neurodegenerative Disease, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Pisaneschi E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
  • Nicita F; Developmental Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Brain Sci ; 13(11)2023 Nov 08.
Article en En | MEDLINE | ID: mdl-38002527
POLR3B encodes the RPC2 subunit of RNA polymerase III. Pathogenic variants are associated with biallelic hypomyelinating leukodystrophy belonging to the POLR-related disorders. Recently, the association with dominant demyelinating neuropathy, classified as Charcot-Marie-Tooth syndrome type 1I (CMT1I), has been reported as well. Here we report on an additional patient presenting with developmental delay and generalized epilepsy, followed by the onset of mild pyramidal and cerebellar signs, vertical gaze palsy and subclinical demyelinating polyneuropathy. A new heterozygous de novo missense variant, c.1297C > G, p.Arg433Gly, in POLR3B was disclosed via trio-exome sequencing. In silico analysis confirms the hypothesis on the variant pathogenicity. Our research broadens both the genotypic and phenotypic spectrum of the autosomal-dominant POLR3B-related condition.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Brain Sci Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Brain Sci Año: 2023 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Suiza