Recessively inherited optic neuropathy has been an elusive entity for a long time. Currently, a few causative genes have been described,1-6 associated with a spectrum of isolated or syndromic optic atrophy. Among these genes, TMEM126A (OPA7) was the first to be reported, with a single causative mutation found in all pedigrees identified to date of North African ancestry (c.163C>T; p.Arg55X), thus possibly belonging to the same founder mutational event.1,7,8

First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness

La Morgia C.
;
Caporali L.;Tagliavini F.;Liguori R.;Carelli V.
2019

Abstract

Recessively inherited optic neuropathy has been an elusive entity for a long time. Currently, a few causative genes have been described,1-6 associated with a spectrum of isolated or syndromic optic atrophy. Among these genes, TMEM126A (OPA7) was the first to be reported, with a single causative mutation found in all pedigrees identified to date of North African ancestry (c.163C>T; p.Arg55X), thus possibly belonging to the same founder mutational event.1,7,8
La Morgia C.; Caporali L.; Tagliavini F.; Palombo F.; Carbonelli M.; Liguori R.; Barboni P.; Carelli V.
File in questo prodotto:
File Dimensione Formato  
First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness.pdf

accesso aperto

Tipo: Versione (PDF) editoriale
Licenza: Licenza per Accesso Aperto. Creative Commons Attribuzione - Non commerciale - Non opere derivate (CCBYNCND)
Dimensione 326.17 kB
Formato Adobe PDF
326.17 kB Adobe PDF Visualizza/Apri

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11585/714879
Citazioni
  • ???jsp.display-item.citation.pmc??? 8
  • Scopus 9
  • ???jsp.display-item.citation.isi??? 8
social impact