{"doi":"10.1002/mgg3.2062","title":"High‐level gonosomal mosaicism for a pathogenic non‐coding <scp>CNV</scp> deletion of the lung‐specific <i>FOXF1</i> enhancer in an unaffected mother of an infant with <scp>ACDMPV</scp>","abstract":"BACKGROUND: Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) results from haploinsufficiency of the mesenchymal transcription factor FOXF1 gene. To date, only one case of an ACDMPV-causative CNV deletion inherited from a very-low level somatic mosaic mother has been reported. METHODS: Clinical, histopathological, and molecular studies, including whole genome sequencing, chromosomal microarray analysis, qPCR, and Sanger sequencing, followed by in vitro fertilization (IVF) with preimplantation genetic testing (PGT) were used to study a family with a deceased neonate with ACDMPV. RESULTS: A pathogenic CNV deletion of the lung-specific FOXF1 enhancer in the proband was found to be inherited from an unaffected mother, 36% mosaic for this deletion in her peripheral blood cells. The qPCR analyses of saliva, buccal cells, urine, nail, and hair samples revealed 19%, 18%, 15%, 19%, and 27% variant allele fraction, respectively, indicating a high recurrence risk. Grandparental studies revealed that the deletion arose on the mother's paternal chromosome 16. PGT studies revealed 44% embryos with the deletion, reflecting high-level germline mosaicism. CONCLUSION: Our data further demonstrate the importance of parental testing in ACDMPV families and reproductive usefulness of IVF with PGT in families with high-level parental gonosomal mosaicism.","journal":"Molecular Genetics & Genomic Medicine","year":2022,"id":284043,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":6,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.8726,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2022-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":317608,"name":"Justyna A. Karolak","orcid":"0000-0002-2340-4513","position":1,"is_corresponding":false},{"id":499137,"name":"Przemysław Szafrański","orcid":"0000-0002-3886-2971","position":2,"is_corresponding":false},{"id":36490,"name":"Tomasz Gambin","orcid":"0000-0002-0941-4571","position":3,"is_corresponding":false},{"id":557133,"name":"Nicholas Willard","orcid":"0000-0003-4912-201X","position":4,"is_corresponding":false},{"id":314764,"name":"Steven H. Abman","orcid":"0000-0002-7292-2085","position":5,"is_corresponding":false},{"id":420015,"name":"Csaba Galambos","orcid":"0000-0002-8940-6650","position":6,"is_corresponding":false},{"id":388658,"name":"John P. Kinsella","orcid":"0000-0003-4840-8761","position":7,"is_corresponding":false},{"id":317616,"name":"Paweł Stankiewicz","orcid":"0000-0002-6456-7490","position":8,"is_corresponding":false},{"id":880142,"name":"Esra Yıldız Bölükbaşı","orcid":"0000-0002-3251-8133","position":0,"is_corresponding":true}],"reference_count":58,"raw_metadata":null,"created_at":"2026-07-19T00:29:32.702533Z","pmid":"36124617","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}