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A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes
BackgroundLoss-of-function mutations in methyl-CpG-binding protein 2 ( MECP2 ; MIM *300005) results in the Rett syndrome, whereas gain-of-function...
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X-linked diseases: susceptible females
The role of X-inactivation is often ignored as a prime cause of sex differences in disease. Yet, the way males and females express their X-linked...
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Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family
BackgroundChromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype...
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Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel
Early-onset developmental and epileptic encephalopathy (DEE) is a group of devastating disorders that appear during the neonatal and infantile...
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Advancement in CRISPR/Cas9 Technology to Better Understand and Treat Neurological Disorders
Neurological disorders have complicated pathophysiology that may involve several genetic mutations. Conventional treatment has limitations as they...
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The Contribution of Adaptive Optics to Our Understanding of the Mechanisms of Color Vision in Humans
We provide here a brief outline of data on color vision in animals and humans, along with the history and methods used in studying it. Results from...
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Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes
BackgroundSmall supernumerary marker chromosomes (sSMCs) are rare structural abnormalities in the population; however, they are frequently found in...
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Complex Molecular Diagnostics of Hemophilia A in Russian Patients
AbstractHemophilia A is a frequent X-linked recessive blood clotting disorder. It is caused by mutations in the F8 gene (locus Xq28) and affects 1...
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Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP) and their biological parents. We classified 37 of 327 (11.3%)...
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The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability
Background1q21 microdeletion syndrome is a rare contiguous gene deletion disorder with de novo or autosomal dominant inheritance patterns and its...
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A study of normal copy number variations in Israeli population
The population of Israel is ethnically diverse, and individuals from different ethnic groups share specific genetic variations. These variations,...
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Interpreting the impact of noncoding structural variation in neurodevelopmental disorders
The emergence of novel sequencing technologies has greatly improved the identification of structural variation, revealing that a human genome harbors...
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17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report
BackgroundChromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with...
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DNA methylation and behavioral dysfunction in males with 47,XXY and 49,XXXXY: a pilot study
BackgroundEqual dosage of X-linked genes between males and females is maintained by the X-inactivation of the second X chromosome in females through...
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EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway
BackgroundMandibulofacial dysostosis with microcephaly (MFDM) is characteristic of multiple skeletal anomalies comprising craniofacial...
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Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity
We combined de novo mutation (DNM) data from 10,927 individuals with developmental delay and autism to identify 253 candidate neurodevelopmental...
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The Molecular Basis of Sex Determination and Differentiation: Implications for Understanding DSD
DSD are a heterogeneous group of congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. They are complex...
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A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case
BackgroundPhelan-McDermid syndrome (PMS) is a rare genetic disorder characterized by global developmental delay, intellectual disability (ID), autism...
