Journal Article

Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family

Téllez, Jesús, Alías, Laura, Crespi, Jaume, Martínez, Elisabeth, Gallano, Ma Pia, González-Quereda, Lidia, Bernal, Sara

2018

Overview

Background Microspherophakia is a rare autosomal recessive eye disorder characterized by small spherical lens. It may present as an isolated finding or in association with other ocular and/or systemic disorders. This clinical and genetic heterogeneity requires the study of large genes ( ADAMTSL4, FBN1, LTBP2, ADAMTSL-10 and ADAMTSL17 ). The purpose of the present study is to identify the genetic cause of this pathology in a consanguineous Spanish family. Methods A clinical exome sequencing experiment was executed by the TruSight One ® Sequencing Panel (TSO) from Illumina©. Sanger sequencing was used to validate the NGS results. Results Only the insertion of an adenine in exon 36 of the LTBP2 gene (c.5439_5440insA) was associated with pathogenicity. This new mutation was validated by Sanger sequencing and segregation analysis was also performed. Haplotype analyses using the polymorphic markers D 14 S 1025, D14S43 and D14S999 close to the LTBP2 gene indicated identity by descent in this family. Conclusion We describe the first case of a microspherophakia phenotype associated with a novel homozygous mutation in the LTBP 2 gene in a consanguineous Caucasian family by means of NGS technology.

• Publisher: BioMed Central,BioMed Central Ltd,BMC
• Subject: Biomedical and Life Sciences / Biomedicine / Clinical exome sequencing / Clinical-Molecular Genetics and Cytogenetics / Cytogenetics / DNA sequencing / Eye diseases / Gene Function / Gene mutations / Genetic aspects / Human Genetics / LTBP2 gene / Marfan syndrome / Microspherophakia / NGS / Nucleotide sequencing / Research Article / TruSight one sequencing panel