title: Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent.
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.
authors.affiliation: 1] Department of Molecular Cytogenetics, Medical Research Institute and School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan [2] Hard Tissue Genome Research Center, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Shin
authors.initials: S
authors.lastname: Hayashi
authors.affiliation: Department of Pediatrics, Nikoniko House Medical and Welfare Center, Kobe, Japan.
authors.forename: Mariko
authors.initials: M
authors.lastname: Yagi
authors.affiliation: Division of Special Care Dentistry, Osaka University Dental Hospital, Osaka, Japan.
authors.forename: Ichijiro
authors.initials: I
authors.lastname: Morisaki
authors.affiliation: 1] Department of Molecular Cytogenetics, Medical Research Institute and School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan [2] Hard Tissue Genome Research Center, Tokyo Medical and Dental University, Tokyo, Japan [3] Bioresource Research Center, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Johji
authors.initials: J
authors.lastname: Inazawa
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14; D055028:Comparative Genomic Hybridization; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D009030:Mosaicism; D009687:Nuclear Proteins / Q000235:genetics*; D051764:PAX9 Transcription Factor / Q000235:genetics*; D035781:Siblings; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; D051764:PAX9 Transcription Factor; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors