Format

Send to

Choose Destination
J Hum Genet. 2015 Apr;60(4):203-6. doi: 10.1038/jhg.2014.123. Epub 2015 Jan 22.

Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent.

Author information

1
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.
2
Department of Pediatrics, Nikoniko House Medical and Welfare Center, Kobe, Japan.
3
Division of Special Care Dentistry, Osaka University Dental Hospital, Osaka, Japan.
4
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.

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.

PMID:
25608831
DOI:
10.1038/jhg.2014.123
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Nature Publishing Group
Loading ...
Support Center