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A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype–phenotype correlation
The PIGO gene encodes the GPI-ethanolamine phosphate transferase 3, which is crucial for the final synthetic step of the...
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Hypoparathyroidism-Retardation-Dysmorphism Syndrome due to a Variant in the Tubulin-Specific Chaperone E Gene as a Cause of Combined Immune Deficiency
BackgroundHypoparathyroidism-retardation-dysmorphism (HRD) syndrome is a disease composed of hypoparathyroidism, growth retardation, severe...
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Nature, Diagnosis and Classification of Mental Disorders
What is a mental disorder? This question must be addressed by any diagnostic and classification system in psychiatry. In this chapter, a brief...
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A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
We report a 9-year-old Spanish boy with severe psychomotor developmental delay, short stature, microcephaly and abnormalities of the brain...
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An insertion mutation of the MECP2 gene in severe neonatal encephalopathy and ocular and oropharyngeal dyskinesia: a case report
BackgroundPathogenic variation of the MECP2 gene presents mostly as Rett syndrome in females and is extremely rare in males. Most male patients with...
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The New CIC Mutation Associates with Mental Retardation and Severity of Seizure in Turkish Child with a Rare Class I Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked recessive disease that causes acute or chronic hemolytic anemia and potentially...
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Aberrant Hippocampal Development in Early-onset Mental Disorders and Promising Interventions: Evidence from a Translational Study
Early-onset mental disorders are associated with disrupted neurodevelopmental processes during adolescence. The methylazoxymethanol acetate (MAM)...
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Failure to reduce benzodiazepine prescriptions through the implementation of a psychological intervention for insomnia in an Italian mental health service
PurposeDespite the evidence of higher effectiveness of psychological interventions for insomnia compared to pharmacological ones, drug prescriptions...
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De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia
BackgroundRubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short...
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Down Syndrome
Down syndrome (DS) is the most commonly identified genetic form of mental retardation and the leading cause of specific birth defects and medical...
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Spectrum of Syndromal Disorders Associated with Expansion of CGG Repeats of the FMR1 Gene Promoter: Pathogenetic Mechanisms and Clinical Manifestations
The class X-associated spectrum disorders (FXSD) combines the following clinical syndromes: fragile X chromosome-linked mental retardation syndrome...
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A Novel Mutation in the MAP7D3 Gene in Two Siblings with Severe Intellectual Disability and Autistic Traits: Concurrent Assessment of BDNF Functional Polymorphism, X-Inactivation and Oxidative Stress to Explain Disease Severity
Intellectual disabilities (ID) and autism spectrum disorders (ASD) are characterized by extreme genetic and phenotypic heterogeneity. However,...
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Ring Chromosome 7
In general, ring chromosomes (RCs) are among the rarest constitutional chromosomal aberrations. Hereby, chromosome 7 comprises only 23 postnatal and...
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Structure, Function and Distribution of ATP8A2 in Human and Mice
AbstractATP8A2 can translocate phospholipids from exoplasmic to the cytoplasmic leaflets to establish and maintain the lipid asymmetry between the...
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Family case of Potocki-Lupski syndrome
BackgroundPotocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous...
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Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families
BackgroundIntellectual disability (ID) is a neurodevelopmental condition affecting around 2% of children and young adults worldwide, characterized by...
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The Contribution of Genetic Sequencing Information to the Identification and Functional Characterization of Two-Pore Domain Potassium (K2P) Channels as Viable Therapeutic Targets
Genetic information can provide important information linking two-pore domain potassium (K2P) channels with disease states, both for diseases where...
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Glutamatergic Pathways and Receptors
Glutamate is a major excitatory neurotransmitter in the vertebrate brain and is utilized at distinct synapses in the cerebellum. Glutamate released...
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The Critical Role of the Shroom Family Proteins in Morphogenesis, Organogenesis and Disease
The Shroom (Shrm) family of actin-binding proteins has a unique and highly conserved Apx/Shrm Domain 2 (ASD2) motif. Shroom protein directs the...
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Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay
Chromosomal copy number variants (CNVs) are an important cause of congenital malformations and mental retardation. This study reported a large...
