Familial Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins Caused by Paternal <scp><i>FOXF1</i></scp> Upstream Enhancer Deletion: A Case Report

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal disease characterized by severe respiratory distress and pulmonary hypertension during the neonatal period, which is seldom diagnosed prenatally. Ten percent of ACDMPV cases are familial and caused by single nucleotide or copy-number variants in FOXF1 or the FOXF1 enhancer in an autosomal dominant manner. Here, we report a familial case of paternal FOXF1 upstream enhancer deletion, detected as somatic mosaicism in his blood specimen. A 37- and 35-year-old couple had four children. The first, third, and fourth children suffered from ACDMPV that led to neonatal death. In this case, the first child was misdiagnosed with meconium aspiration syndrome, and the diagnosis of ACDMPV was first made after the autopsy of the third child. The option of preimplantation or prenatal genetic testing did not exist during the pregnancy of the fourth child, as the complex genetic basis became clear only after the death of the fourth child.

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Publication Details

Journal
American Journal of Medical Genetics Part A
Published
2025-03-20
DOI
https://doi.org/10.1002/ajmg.a.64056
Citations
1
Primary Topic
Medical Imaging and Pathology Studies
Type
article
Field-Weighted Citation Impact
1.52

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article

Familial Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins Caused by Paternal FOXF1 Upstream Enhancer Deletion: A Case Report

Hirofumi Ohashi, Kazuhiko Nakabayashi, Kazutoshi Cho, Masahiko Kawai et al.
1 citations
American Journal of Medical Genetics Part A
Medical Imaging and Pathology Studies
1.52
article

Familial Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins Caused by Paternal FOXF1 Upstream Enhancer Deletion: A Case Report

Hirofumi Ohashi, Kazuhiko Nakabayashi, Kazutoshi Cho, Masahiko Kawai, Hidenori Kawasaki, Sachiko Minamiguchi, Seiichi Tomotaki, Takahiro Yamada, Shinji Kosugi, Kenichiro Hata, Masako Torishima, Tetsuo Onda, Akiko Moriya Saito, Masahiro Hayakawa, Masahiko Ikeda
article en
1 citations

Abstract

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal disease characterized by severe respiratory distress and pulmonary hypertension during the neonatal period, which is seldom diagnosed prenatally. Ten percent of ACDMPV cases are familial and caused by single nucleotide or copy-number variants in FOXF1 or the FOXF1 enhancer in an autosomal dominant manner. Here, we report a familial case of paternal FOXF1 upstream enhancer deletion, detected as somatic mosaicism in his blood specimen. A 37- and 35-year-old couple had four children. The first, third, and fourth children suffered from ACDMPV that led to neonatal death. In this case, the first child was misdiagnosed with meconium aspiration syndrome, and the diagnosis of ACDMPV was first made after the autopsy of the third child. The option of preimplantation or prenatal genetic testing did not exist during the pregnancy of the fourth child, as the complex genetic basis became clear only after the death of the fourth child.

American Journal of Medical Genetics Part AVol. 197(7)
Gunma University (JP), Kyoto University (JP), Nagoya University Hospital (JP), Saitama Children's Medical Center (JP), National Center For Child Health and Development (JP), Hokkaido University Hospital (JP), Kyoto University Hospital (JP)
Japan Agency for Medical Research and Development
Good health and well-being
Openalex Percentile: Top 21%
Medical Imaging and Pathology Studies
1.52
DOIOpen Access PDFOpenAlex
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