What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration

@article{Ketelaar2012WhatMT,
  title={What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration},
  author={M. Ketelaar and R. S. Hofstra and M Hayden},
  journal={Clinical Genetics},
  year={2012},
  volume={81}
}
Ketelaar ME, Hofstra RMW, Hayden MR. What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration. 
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ncbi.nlm.nih.gov
31 Citations
Background Citations
11
Methods Citations
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31 Citations

Citation Type

Citation Type

Monozygotic twins with LRRK2 mutations: Genetically identical but phenotypically discordant
TLDR
Although phenotypic discordance between monozygotic twins is expected in diseases with substantial environmental contributions, this occurrence is puzzling if the cause is monogenic with high penetrance.
Correlation between FMR1 expression and clinical phenotype in discordant dichorionic–diamniotic monozygotic twin sisters with the fragile x mutation
TLDR
The sixfold variation in hair root FMR1 expression, which reflected FMRP (fragile X mental retardation protein) expression in the brain, accounted for the disparate phenotypes in IQ, cognition, and social capability between the twins.
Discovering pathways to autism spectrum disorder by using functional and integrative genomics approaches to assess monozygotic twin differences
TLDR
Microarray and RNA-seq studies characterising gene expression in a sample of 53 ASD MZ twin pairs from TEDS establish convergent evidence for genes and pathways involved in the etiology of ASD and identify those responsive to the environment by examining differences within the discordant pairs.
The mystery of monozygotic twinning II: What can monozygotic twinning tell us about Amyoplasia from a review of the various mechanisms and types of monozygotic twinning?
  • Judith G Hall
  • Medicine
    American journal of medical genetics. Part A
  • 2021
TLDR
Amyoplasia, a specific nongenetic form of arthrogryposis, appears to occur in spontaneous MZ twinning and may be related to twin–twin transfusion.
Copy Number Variants and Exome Sequencing Analysis in Six Pairs of Chinese Monozygotic Twins Discordant for Congenital Heart Disease
TLDR
This study confirms that chromosomal structure or genetic mutation differences do not seem to play a role in the MZ twins discordant for CHD.
De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
TLDR
A de novo variant in RASD2 shared by 8-year-old male twins with a suspected diagnosis of autism spectrum disorder (ASD) manifesting as different traits is identified and a rare deletion overlapping ARHGAP11B is identified, in the twin pair manifesting with either schizotypal personality disorder or schizophrenia.
De novo point mutations and copy number variants in discordant monozygotic twins reveals disease-susceptibility genes
TLDR
Evidence is provided for de novo point mutations and CNVs in disease-related genes associated with a variety of clinical phenotypes present in MZ twins and potentially pathogenic mutations shared by discordant twins are found.
Whole‑genome sequencing of a monozygotic twin discordant for systemic lupus erythematosus.
TLDR
The above results suggest that genomic sequences of leukocytes in the monozygotic twins may exhibit a rare difference, and that CNV changes may be associated with phenotype differences in the twin discordant for SLE.
Whole Genome and Exome Sequencing of Monozygotic Twins with Trisomy 21, Discordant for a Congenital Heart Defect and Epilepsy
TLDR
A pair of monozygotic twins with trisomy 21 but discordant for a ventricular septal defect and epilepsy are identified and next generation sequencing technologies were applied to sequence both whole genome and exome of their leukocytes.
The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins
TLDR
Cases of SCA8 in Japanese monozygotic twins that presented with nystagmus, dysarthria, and limb and truncal ataxia suggest the pathogenesis of ATXN8OS repeat expansions in hereditary cerebellar ataxIA.
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