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Article

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

BMC medical genetics - 11 May 2018

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

Abstract excerpt

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...

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Source

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Identifiers

PMID: 29751740
DOI: 10.1186/s12881-018-0590-0
PMCID: PMC5948732

Genes

LTBP2
ADAMTSL4
FBN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family.PMID 29751740Read ↗

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