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Article

Segmental uniparental isodisomy of chromosome 6 causing transient diabetes mellitus and merosin-deficient congenital muscular dystrophy.

American journal of medical genetics. Part A - 1 Nov 2014

Andrade Raissa Coelho, Nevado Julián, de Faria Domingues de Lima Maria Angélica, Saad Tânia, Moraes Lucia, Chimelli Leila, Lapunzina Pablo, Vargas Fernando Regla

Abstract excerpt

Segmental uniparental isodisomy (iUPD) is a rare genetic event that may cause aberrant expression of imprinted genes, and reduction to homozygosity of a recessive mutation. Transient neonatal diabetes mellitus (TNDM) is typically caused by imprinting aberrations in chromosome 6q24 TNDM differentially-methylated region (DMR). Approximately, 15.12 Mb upstream in 6q22-q23 is located LAMA2, the gene responsible of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 25124546
DOI: 10.1002/ajmg.a.36716

Genes

LAMA2

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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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