ArticleJournal of human genetics2015
Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent.
Article in Journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 18 citations in OpenAlex.
- Haploinsufficiency ofIntractable & rare diseases research · 2024Article
- Chromosome Microarray Analysis for the Investigation of Deletions in Pediatric Movement Disorders: A Systematic Review of the Literature.Movement disorders clinical practice · 2023Review
- PAX Genes in Cardiovascular Development.International journal of molecular sciences · 2022Review
- Msx1 haploinsufficiency modifies the Pax9-deficient cardiovascular phenotype.BMC developmental biology · 2021Article
- Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders.Frontiers in genetics · 2020Article
- A novel 14q13.1-21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency.Molecular cytogenetics · 2019Article
- Genetic basis for childhood interstitial lung disease among Japanese infants and children.Pediatric research · 2018Article
- Roles of Thyroid Transcription Factor 1 in Lung Cancer Biology.Vitamins and hormones · 2018Review
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
By screening patients with undiagnosed multiple congenital anomalies and intellectual disability using array-comparative genomic hybridization, we identified an 884 kb heterozygous microdeletion at 14q13.3 in two siblings presenting with oligodontia, hypothyroidism and persistent pulmonary hypertension of the newborn, resulting from their parental gonosomal mosaicism. Among the six genes included in the deletion, haploinsufficiency of PAX9 and NKX2-1 was probably associated with their phenotypes. These results highlighted a possibility of recurrence of pathogenic copy-number variants associated with parental mosaicism, which requires careful genetic counseling.
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Registered trials
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