Abstract
BackgroundMicrospherophakia 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.MethodsA clinical exome sequencing experiment was executed by the TruSight One® Sequencing Panel (TSO) from Illumina©. Sanger sequencing was used to validate the NGS results.ResultsOnly 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 D14S1025, D14S43 and D14S999 close to the LTBP2 gene indicated identity by descent in this family.ConclusionWe describe the first case of a microspherophakia phenotype associated with a novel homozygous mutation in the LTBP2 gene in a consanguineous Caucasian family by means of NGS technology.
Highlights
IntroductionMicrospherophakia is a rare autosomal recessive eye disorder characterized by small spherical lens
Microspherophakia (MSP, OMIM 251750) is a rare autosomal recessive (AR) eye disorder characterized by small spherical lens
The FBN1 gene, with 65 exons extending over 200 kb of genomic DNA, codes for the main protein of extracellular microfibrils: Fibrillin-1
Summary
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. Microspherophakia (MSP, OMIM 251750) is a rare autosomal recessive (AR) eye disorder characterized by small spherical lens It may present either as an isolated finding or in association with other ocular anomalies such as megalocornea, ectopia lentis and secondary glaucoma, or with hereditary systemic disorders such as Marfan syndrome and Weill-Marchesani syndrome. These two latter conditions are caused by mutations in the FBN1 gene, whose protein product fibrillin-1 (FBN1) is a major structural component of the microfibrils. Because the C-terminal region of the LTBP2 protein binds to the N-terminal
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