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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.

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