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Case of twin achondroplasia and autism coexistence and literature review.
Psychiatr Genet
December 2023
Department of Pediatric Genetics, Necmettin Erbakan University, Meram Faculty of Medicine.
Article Synopsis
- * There have been reports of autism occurring with other genetic disorders, but this article focuses on twin patients with both achondroplasia and ASD.
- * The study looks into what might cause ASD, considering both genes and the environment around the twins.
Coexistence of Rett & Angelman syndrome: A rare clinical presentation.
Indian J Med Res
January 2022
Department of Pediatric Neurology, P.D. Hinduja National Hospital & Research Centre, Mumbai 400 016, Maharashtra, India.
Unusual double mutation in MECP2 and CDKL5 genes in Rett-like syndrome: Correlation with phenotype and genes expression.
Clin Chim Acta
September 2020
Laboratory of Molecular and Functional Genetics, Faculty of Science of Sfax, Sfax University, Tunisia. Electronic address:
Introduction: Rett syndrome (RTT) is a neuro-developmental disorder affecting almost exclusively females and it divided into classical and atypical forms of the disease. RTT-like syndrome was also described and presents an overlapping phenotype of RTT. RTT-like syndrome has been associated with several genes including MECP2 and CDKL5 having common biological pathways and regulatory interactions especially during neural maturation and synaptogenesis.
View Article and Find Full Text PDFThe epigenetic machinery in conjunction with the transcriptional machinery is responsible for maintaining genome-wide chromatin states and dynamically regulating gene expression. Mendelian disorders of the epigenetic machinery (MDEMs) are genetic disorders resulting from mutations in components of the epigenetic apparatus. Though individually rare, MDEMs have emerged as a collectively common etiology for intellectual disability (ID) and growth disruption.
View Article and Find Full Text PDFCharacterization of human mosaic Rett syndrome brain tissue by single-nucleus RNA sequencing.
Nat Neurosci
December 2018
Department of Neurobiology, Harvard Medical School, Boston, MA, USA.
In females with X-linked genetic disorders, wild-type and mutant cells coexist within brain tissue because of X-chromosome inactivation, posing challenges for interpreting the effects of X-linked mutant alleles on gene expression. We present a single-nucleus RNA sequencing approach that resolves mosaicism by using single-nucleotide polymorphisms in genes expressed in cis with the X-linked mutation to determine which nuclei express the mutant allele even when the mutant gene is not detected. This approach enables gene expression comparisons between mutant and wild-type cells within the same individual, eliminating variability introduced by comparisons to controls with different genetic backgrounds.
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