ArticleBMC medical genomics2020
A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report.
Article in BMC medical genomics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 30 citations in OpenAlex.
- Variant Class-Specific Phenotypes and Outcomes in Pediatric TBX4-Associated Pulmonary Hypertension.Pediatric pulmonology · 2026Article
- Multifaceted role of T-box transcription factor 4: From embryonic development to disease pathogenesis.Genes & diseases · 2026Review
- Highly Variable Expressivity of a CNV Deletion Involving TBX4 in Three Deceased Siblings With Lung Developmental Disorder and Their Mildly Affected Mother and Grandfather.Clinical genetics · 2026Article
- Diagnostic Value of Choroid Plexus-to-Lateral Ventricle Volume Ratio (CLVVR) in First-Trimester Screening (11-13⁺International journal of general medicine · 2026Article
- Complex Genomic Rearrangement Involving theHuman mutation · 2026Article
- A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.Genes & genomics · 2025Article
- Review
- The Glu86 Residue in TBX4 Proves Critical for Human Lung Development.American journal of medical genetics. Part A · 2025Article
- Neonatal persistent pulmonary hypertension related to a novel TBX4 mutation: case report and review of the literature.Italian journal of pediatrics · 2024Review
- A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.Clinical genetics · 2024Article
- Molecular Function and Contribution ofAmerican journal of respiratory and critical care medicine · 2023Review
- Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant.European journal of human genetics : EJHG · 2022Article
- Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant.American journal of medical genetics. Part A · 2022Article
- A Rare Case Report of 17q23.1q23.2 Microdeletion With Homozygosity of 11p11.2q13.4 in a Newborn.Cureus · 2022Article
- Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency.Respiratory research · 2021Article
- The "Angiogenic Switch" and Functional Resources in Cyclic Sports Athletes.International journal of molecular sciences · 2021Review
- Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.BMC medical genomics · 2021Article
- DiminishedPediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyArticle
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Authors and funding
6 authors at 4 institutions in 3 countries.
Funding
Abstract
backgroundApplication of whole genome sequencing (WGS) enables identification of non-coding variants that play a phenotype-modifying role and are undetectable by exome sequencing. Recently, non-coding regulatory single nucleotide variants (SNVs) have been reported in patients with lethal lung developmental disorders (LLDDs) or congenital scoliosis with recurrent copy-number variant (CNV) deletions at 17q23.1q23.2 or 16p11.2, respectively. CASE PRESENTATION: Here, we report a deceased newborn with pulmonary hypertension and pulmonary interstitial emphysema with features suggestive of pulmonary hypoplasia, resulting in respiratory failure and neonatal death soon after birth. Using the array comparative genomic hybridization and WGS, two heterozygous recurrent CNV deletions: ~ 2.2 Mb on 17q23.1q23.2, involving TBX4, and ~ 600 kb on 16p11.2, involving TBX6, that both arose de novo on maternal chromosomes were identified. In the predicted lung-specific enhancer upstream to TBX4, we have detected seven novel putative regulatory non-coding SNVs that were absent in 13 control individuals with the overlapping deletions but without any structural lung anomalies.
conclusionsOur findings further support a recently reported model of complex compound inheritance of LLDD in which both non-coding and coding heterozygous TBX4 variants contribute to the lung phenotype. In addition, this is the first report of a patient with combined de novo heterozygous recurrent 17q23.1q23.2 and 16p11.2 CNV deletions.
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