Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples

Peluso, Francesca; Caraffi, Stefano Giuseppe; Zuntini, Roberta; Trimarchi, Gabriele; Ivanovski, Ivan; Valeri, Lara; Barbieri, Veronica; Marinelli, Maria; Pancaldi, Alessia; Melli, Nives; Cesario, Claudia; Agolini, Emanuele; Cellini, Elena; Radio, Francesca Clementina; Crisafi, Antonella; Napoli, Manuela; Guerrini, Renzo; Tartaglia, Marco; Novelli, Antonio; Gargano, Giancarlo; Zuffardi, Orsetta; Garavelli, Livia

doi:10.3390/genes12070962

We report on two siblings suffering from different pathogenic conditions, born to consanguineous parents. A multigene panel for brain malformations and microcephaly identified the homozygous splicing variant NM_005886.3:c.1416+1del in the KATNB1 gene in the older sister. On the other hand, exome sequencing revealed the homozygous frameshift variant NM_005245.4:c.9729del in the FAT1 gene in the younger sister, who had a more complex phenotype: in addition to bilateral anophthalmia and heart defects, she showed a right split foot with 4 toes, 5 metacarpals, second toe duplication and preaxial polydactyly on the right hand

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples / Peluso, F., Caraffi, S.G., Zuntini, R., Trimarchi, G., Ivanovski, I., Valeri, L., Barbieri, V., Marinelli, M., Pancaldi, A., Melli, N., Cesario, C., Agolini, E., Cellini, E., Radio, F.C., Crisafi, A., Napoli, M., Guerrini, R., Tartaglia, M., Novelli, A., Gargano, G., et al.. - In: GENES & DEVELOPMENT. - ISSN 0890-9369. - ELETTRONICO. - 12:(2021), pp. 0-0. [10.3390/genes12070962]