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Article

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

Genes - 24 Jun 2021

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

Abstract excerpt

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...

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Identifiers

PMID: 34202629
DOI: 10.3390/genes12070962
PMCID: PMC8303193

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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