ArticleJournal of human genetics2018
Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion.
Article in Journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- Congenital heart disease presentations in the 15q11.2 microdeletion syndrome.Frontiers in genetics · 2025Review
- Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return.European journal of human genetics : EJHG · 2023Article
- Recurrence pattern of non-syndromic familial congenital heart diseases among a large cohort of families from Egypt.BMC pediatrics · 2022Article
- Total Anomalous Pulmonary Venous Connection in Mother and Son with a Central 22q11.2 Microdeletion.Case reports in genetics · 2021Article
- Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome.International journal of molecular sciences · 2019Article
- A Rare Case of 15q11.2 Microdeletion Syndrome with Atypical Features: Diagnostic Dilemma.Cureus · 2018Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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