Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-11

AUTHORS

Yukiko Kuroda, Ikuko Ohashi, Takuya Naruto, Kazumi Ida, Yumi Enomoto, Toshiyuki Saito, Jun-ichi Nagai, Sadamitsu Yanagi, Hideaki Ueda, Kenji Kurosawa

ABSTRACT

A 15q11.2 microdeletion (BP1-BP2) is associated with congenital heart diseases (CHDs), developmental delay, and epilepsy. This deletion co-occurs with CHD in 20-30% patients, but a familial case of CHD and a 15q11.2 deletion has not been identified. Here we report the first familial (three siblings) case of total anomalous pulmonary venous return associated with 15q11.2 deletion. Array comparative genomic hybridization identified a ~395 kb deletion at 15q11.2 in patient 1. This deletion was confirmed by fluorescence in situ hybridization in patients 1 and 3 and their asymptomatic father. No deleterious mutation was identified by proband-only exome sequencing of patient 1. One healthy sibling and their mother did not carry the deletion. This deletion is often inherited from asymptomatic parents with an estimated low penetrance of 10.4%. Conversely, we observed high penetrance of this deletion, but secondary copy-number variants or pathogenic variants were not detected in this family. More... »

PAGES

1185-1188

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s10038-018-0499-7

DOI

http://dx.doi.org/10.1038/s10038-018-0499-7

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1106133427

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30108319


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