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Article

Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.

American journal of medical genetics. Part A - 1 May 2017

Takenouchi Toshiki, Kuchikata Tomu, Yoshihashi Hiroshi, Fujiwara Mineko, Uehara Tomoko, Miyama Sahoko, Yamada Shiro, Kosaki Kenjiro

Abstract excerpt

Among more than 5,000 human monogenic disorders with known causative genes, transposable element insertion of a Long Interspersed Nuclear Element 1 (LINE1, L1) is known as the mechanistic basis in only 13 genetic conditions. Meckel-Gruber syndrome is a rare ciliopathy characterized by occipital encephalocele and cystic kidney disease. Here, we document a boy with occipital encephalocele, post-axial polydactyly,...

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PMID: 28374938
DOI: 10.1002/ajmg.a.38167

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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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