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Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans
- Source :
- Nature Communications, Nature Communications 6, 8086 (2015). doi:10.1038/ncomms9086
- Publication Year :
- 2015
- Publisher :
- Springer Science and Business Media LLC, 2015.
-
Abstract
- Human-imprinting disorders are congenital disorders of growth, development and metabolism, associated with disturbance of parent of origin-specific DNA methylation at imprinted loci across the genome. Some imprinting disorders have higher than expected prevalence of monozygotic twinning, of assisted reproductive technology among parents, and of disturbance of multiple imprinted loci, for which few causative trans-acting mutations have been found. Here we report mutations in NLRP5 in five mothers of individuals affected by multilocus imprinting disturbance. Maternal-effect mutations of other human NLRP genes, NLRP7 and NLRP2, cause familial biparental hydatidiform mole and multilocus imprinting disturbance, respectively. Offspring of mothers with NLRP5 mutations have heterogenous clinical and epigenetic features, but cases include a discordant monozygotic twin pair, individuals with idiopathic developmental delay and autism, and families affected by infertility and reproductive wastage. NLRP5 mutations suggest connections between maternal reproductive fitness, early zygotic development and genomic imprinting.<br />Genomic imprinting disturbance can give rise to complex congenital disorders affecting growth, metabolism and behaviour. Here the authors report mutations in NLRP5, which suggests a connection between imprinting, maternal reproductive fitness and zygotic development.
- Subjects :
- Male
Beckwith-Wiedemann Syndrome
medicine.medical_treatment
Medizin
General Physics and Astronomy
Monozygotic twin
Autoantigens
Polymerase Chain Reaction
Infant, Newborn, Diseases
Epigenesis, Genetic
Diabetes mellitus genetics
Pregnancy
Imprinting (psychology)
Genetics
Multidisciplinary
Nuclear Proteins
Hydatidiform Mole
3. Good health
Uterine Neoplasms
DNA methylation
Female
Biologie
Infertility, Female
Adult
Adolescent
DNA Copy Number Variations
Mothers
Biology
Article
General Biochemistry, Genetics and Molecular Biology
Mitochondrial Proteins
Genomic Imprinting
Young Adult
Diabetes Mellitus
medicine
Humans
Computer Simulation
Obesity
Epigenetics
Autistic Disorder
Assisted reproductive technology
Silver–Russell syndrome
Sequence Analysis, DNA
Twins, Monozygotic
General Chemistry
DNA Methylation
medicine.disease
Abortion, Spontaneous
Silver-Russell Syndrome
Mutation
Genomic imprinting
Subjects
Details
- ISSN :
- 20411723
- Volume :
- 6
- Database :
- OpenAIRE
- Journal :
- Nature Communications
- Accession number :
- edsair.doi.dedup.....1e25785a2e5a14e2b8369060350bdcd6