Article
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.
Human genetics - 1 Dec 2019
Szafranski Przemyslaw, Liu Qian, Karolak Justyna A, Song Xiaofei, de Leeuw Nicole, Faas Brigitte, Gerychova Romana, Janku Petr, Jezova Marta, Valaskova Iveta, Gibbs Kathleen A, Surrey Lea F, Poisson Virginie, Bérubé Denis, Oligny Luc L, Michaud Jacques L, Popek Edwina, Stankiewicz Paweł
Abstract excerpt
Haploinsufficiency of FOXF1 causes alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV), a lethal neonatal lung developmental disorder. We describe two similar heterozygous CNV deletions involving the FOXF1 enhancer and re-analyze FOXF1 missense mutation, all associated with an unexpectedly mitigated disease phenotype. In one case, the deletion of the maternal allele of the FOXF1 enhancer...
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