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LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix.

Human mutation - 1 Aug 2012

Haji-Seyed-Javadi Ramona, Jelodari-Mamaghani Sahar, Paylakhi Seyed Hassan, Yazdani Shahin, Nilforushan Naveed, Fan Jian-Bing, Klotzle Brandy, Mahmoudi Mohammad Jafar, Ebrahimian Mohammad Jafar, Chelich Noori, Taghiabadi Ehsan, Kamyab Kambiz, Boileau Catherine, Paisan-Ruiz Coro, Ronaghi Mostafa, Elahi Elahe

Abstract excerpt

Latent transforming growth factor (TGF) beta-binding protein 2 (LTBP2) is an extracellular matrix (ECM) protein that associates with fibrillin-1 containing microfibrils. Various factors prompted considering LTBP2 in the etiology of isolated ectopia lentis and associated conditions such as Weill-Marchesani syndrome (WMS) and Marfan syndrome (MFS). LTBP2 was screened in 30 unrelated Iranian patients. Mutations were...

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Identifiers

PMID: 22539340
DOI: 10.1002/humu.22105

Genes

LTBP2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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