TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafness

• DOI: 10.1016/j.ejmg.2022.104471
• Publication Date: 2022-02-28T16:54:54Z
• Authors: Anita Maasz; Kinga Hadzsiev; Reka Ripszam; Anna Zsigmond; Erika Maka; Krisztina Knezy; Balazs Lesch; Adrienn Nemeth; Judit Bene; Bence Galik; Attila Gyenesei; Bela Melegh
• Keywords: 0303 health sciences; 03 medical and health sciences; Phenotype; Tubulin; Leber Congenital Amaurosis; Mutation; Humans; Female; Deafness; Blindness; Pedigree; 3. Good health

Beta-tubulin 4B isotype is one of the subunits microtubules encoded by TUBB4B gene on chromosome 9, which responsible for maintenance microtubule stability. In humans, mutations in microtubule-encoding genes have been associated with several tubulinopathies very heterogeneous symptoms. So far, only two missense found to pathological implications this disorder. Here we report a Hungarian family three affected members, mother and her 12- 14-year-old children, who suffer from ophthalmologic hearing impairments probably due c.1171C > T variant gene. The presented case second report, unique literature because members carrying same mutation provides evidence quite similar but not identical phenotype LCAEOD subjects mutation.