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Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay.
- Source :
-
Journal of medical genetics [J Med Genet] 2018 Dec; Vol. 55 (12), pp. 847-852. Date of Electronic Publication: 2018 Jul 14. - Publication Year :
- 2018
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Abstract
- Background: We report here clinical, cytogenetic and molecular data for a pair of monochorionic diamniotic twins with paternal isodisomy for chromosome 19. Both twins presented with dysmorphic features and global developmental delay. This represents, to our knowledge, the first individual human case of paternal uniparental disomy for chromosome 19 (UPD19).<br />Methods: Whole-exome sequencing, together with conventional karyotype and SNP array analysis were performed along with genome-wide DNA methylation array for delineation of the underlying molecular defects.<br />Results: Conventional karyotyping on amniocytes and lymphocytes showed normal karyotypes for both twins. Whole-exome sequencing did not identify any pathogenic sequence variants but >5000 homozygous exonic variants on chromosome 19, suggestive of UPD19. SNP arrays on blood and buccal DNA both showed paternal isodisomy for chromosome 19. Losses of imprinting for known imprinted genes on chromosome 19 were identified, including ZNF331 , PEG3 , ZIM2 and MIMT1. In addition, imprinting defects were also identified in genes located on other chromosomes, including GPR1-AS , JAKMP1 and NHP2L1 .<br />Conclusion: Imprinting defects are the most likely cause for the dysmorphism and developmental delay in this first report of monozygotic twins with UPD19. However, epigenotype-phenotype correlation will require identification of additional individuals with UPD19 and further molecular analysis.<br />Competing Interests: Competing interests: None declared.<br /> (© Author(s) (or their employer(s)) 2018. No commercial re-use. See rights and permissions. Published by BMJ.)
- Subjects :
- Alleles
DNA Mutational Analysis
Facies
Female
Humans
Infant, Newborn
Karyotyping
Mutation
Paternal Inheritance
Phenotype
Prenatal Diagnosis
Exome Sequencing
Chromosome Disorders diagnosis
Chromosome Disorders genetics
Chromosomes, Human, Pair 19
Developmental Disabilities diagnosis
Developmental Disabilities genetics
Twins, Monozygotic
Uniparental Disomy
Subjects
Details
- Language :
- English
- ISSN :
- 1468-6244
- Volume :
- 55
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- Journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 30007940
- Full Text :
- https://doi.org/10.1136/jmedgenet-2018-105328