The results of clinical, genealogical, cytogenetic, and molecular genetic studies of 113 patients from 96 families with different forms of mental retardation from Ukraine are presented. This study was held as part of the CHERISH project of the Seventh Framework Program. The aim of the project is to improve the diagnostics methods of mental retardation in children in Eastern Europe and Central Asia through detailed analysis of known chromosomal and genes alterations and to find new candidate genes that cause mental retardation. All patients have a normal chromosome number (46XY or 46XX). The cases with fragile X syndrome were eliminated using molecular genetic methods. Genome rearrangements were found among 28 patients using cytogenetic analysis (variations in the number of gene copies). Eleven cases are unknown aberrations. The obtained results show the strong genetic heterogeneity of hereditary forms of mental retardation.
Primary microcephaly (MCPH) is a genetically heterogeneous disorder showing an autosomal recessive mode of inheritance. Affected individuals present with head circumferences more than three SDs below the age- and sex-matched population mean, associated with mild to severe mental retardation. Five...
This review discusses the various aspects of epilepsy in Down syndrome (DS) from the perspective of paediatric neurology. DS is the most common genetic cause of mental retardation (MR) with a reported prevalence of epilepsy of 1–13%. Infantile spasms (IS) or West syndrome (WS) is the most frequ...
The inherited disorders of hemoglobin synthesis are the most common monogenic disorders worldwide. They include thalassemias, hemoglobin variants and hereditary persistence of fetal hemoglobin. β-thalassemia is the most common monogenic disorder in India. Clinical manifestations of β-thalassemi...
Smith-Lemli-Opitz syndrome (SLOS) is a genetic syndrome associated with multiple congenital malformations, mental retardation, and autism spectrum behaviors. This clinical protocol was part of a larger study investigating the effects of a cholesterol-lowering medication for SLOS patients. Behavio...
Up to the 1950s, there was an ongoing debate about the diversity of hereditary optic neuropathies, in particular as to whether all inherited optic atrophies can be ascribed to Leber's hereditary optic neuropathy (LHON) or represent different disease entities. In 1954 W. Jaeger published a detaile...
X-linked mental retardation (XLMR) is a complex human disease that causes intellectual disability. Causal mutations have been found in approximately 90 X-linked genes; however, molecular and biological functions of many of these genetically defined XLMR genes remain unknown. PHF8 (PHD (plant home...
State-of-the-art cytogenetic and molecular-cytogenetic methods for studying human chromosomes were used to analyze chromosomal anomalies and variants in mothers of children with autistic disorders and the results were compared with clinical-genealogical data. These investigations showed that thes...
Cohen syndrome is a rare autosomal recessive inherited disorder that results from mutations of the VPS13B gene. Clinical features consist of a combination of mental retardation, facial dysmorphism, postnatal microcephaly, truncal obesity, slender extremities, joint hyperextensibility, myopia, pro...
The CACNA1C gene (-1C subunit of the L-type voltage-gated calcium channel) has been identified as a risk gene for bipolar disorder and schizophrenia, but the mechanism of association has not been explored. To identify the neural system mechanism that explains the genetic association between the C...
Two genes causally involved in refractory epilepsy with mental retardation, cyclin-dependent kinase-like 5 and aristaless-related homeobox, could account for at least some forms of early onset epileptic encephalopathy that still lack etiological explanation. With the aim of investigating the spec...
