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

BMC Medical Genetics
Laura AlíasMa Pia Gallano

Abstract

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. 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. 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 D14S1025, D14S43 and D14S999 close to the LTBP2 gene indicated identity by descent in this family. We 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.

References

Apr 23, 2003·Gene·David A Buchner, Miriam H Meisler
Sep 16, 2004·American Journal of Human Genetics·Nathalie DagoneauValérie Cormier-Daire
Feb 10, 2009·American Journal of Human Genetics·Dina AhramHatem El-Shanti
Apr 14, 2009·American Journal of Human Genetics·Manir AliChris F Inglehearn
Feb 25, 2010·European Journal of Human Genetics : EJHG·Julie DésirMarc Abramowicz
Jul 10, 2010·Human Genetics·Arun KumarSusan H Blanton
Nov 6, 2010·Investigative Ophthalmology & Visual Science·Teresa M NeuhannAndreas Rump
Sep 2, 2011·Human Molecular Genetics·Carine Le Goff, Valérie Cormier-Daire
Mar 5, 2016·Human Mutation·Johan T den DunnenPeter E M Taschner

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Methods Mentioned

BETA
PCR
exome sequencing

Software Mentioned

SIFT
Align
GeneScan®
NNSPLICE
PolyPhen
ESE
MaxEntScan
GVGD
VariantStudio
GeneSplicer

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