Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036341 (schizophrenia)
 60,220 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Amniocentesis, the obtaining of a small amount of amniotic fluid with fetal cells for testing, has made it possible to diagnose some diseases in utero early enough in pregnancy to permit abortion. The current major indications for prenatal diagnosis are Down's syndrome (Trisomy 21), numerous rare inborn errors of metabolism, and neural tube closure defects. Chromosoml screening in prisons has identified men with sex chromosomal abnormalities with higher frequency than in the general population, e.g., the XYY syndrome and the XXY or Klinefelter syndrome. Some of the disorders of sexual differentiation of behavioral interest range from hermaphrodites, the Turner syndrome, congenital adrenal hyperplasia, and testicular feminization. Depression and schizophrenia are 2 psychiatric disorders that are probably influenced by genetic factors but cannot be tested for at present. Behavioral syndromes associated with abnormal chromosomes or biochemical markers may be suitable for early detection int he future. There are many social and psychological problems in testing and counseling for genetic and chromosomal diseases.
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PMID:Intrauterine diagnosis and genetic counseling in psychiatry. 79 88

A twenty-five-year old man presented with an acute paranoid disorder, and was subsequently diagnosed as having Klinefelter's Syndrome. Our review of previous reports suggests that the literature pointing out a particular association between Klinefelter's and schizophrenia may be misleading. In fact, Klinefelter's patients are liable to suffer from schizophrenia, paranoid disorders, or possibly other disorders.
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PMID:Acute paranoid disorder and Klinefelter's syndrome. 373 Oct 12

A case of severe schizophrenia is described in a patient with chromosomal mosaicism of Klinefelter's syndrome (XXY) and trisomy 8. The literature of both syndromes is reviewed and the aetiological implications discussed.
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PMID:Schizophrenia with karyotype mosaic 47,XXY/48,XXY + 8. 755 65

A case of Klinefelter's syndrome with schizophrenia-like symptoms is reported. He was given a diagnosis of schizophrenia at the age of 39. After being treated with medication for many years, he stopped taking them at the age of seventy-two and involuntary movements appeared in his limbs and the trunk. Upon admission to our hospital, he was experiencing delusion and psychosocial excitement. A physical examination showed him to be a thin man of 175.5 cm height, suffering from a mild degree of gynecomastia, testicular atrophy. Serum LH and FSH were both high 10.9 and 47.8 mU/ml respectively. Serum testosterone concentration was 0.2 ng/ml, much lower than the normal range (2.7-10.7 ng/ml). On the Wechsler adult intelligence scale (Revision), his total IQ was 103 (performance IQ 100, verbal IQ105). Karyotype analysis revealed an XXY pattern. Although slight auditory hallucinations remained, the delusional symptoms as well as the involuntary movements diminished after the administration of psychotrophics. Personality changes such as apathy and abulia was subsided. The psychological symptoms were very similar to these of cases in other reports of Klinefelter's syndrome associated with schizophrenia-like symptoms. Some reports about the relationships between sex hormones and schizophrenia including other psychotic disorders suggest that the X-chromosome plays an important part in the mechanism of psychosocial symptoms and in the prognosis in Klinefelter's syndrome.
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PMID:[A case of Klinefelter's syndrome with schizophrenia-like symptoms]. 1099 33

DAX-1 [dosage-sensitive sex reversal, adrenal hypoplasia congenital (AHC) critical region on the X chromosome, gene 1] is a transcription factor expressed in the adrenal gland and at all levels of the gonadotrope axis. Inactivating mutations of DAX1 result in the X-linked form of AHC with associated hypogonadotropic hypogonadism. AHC usually reveals itself as adrenal failure in early infancy, although a wide range of phenotypic expression has been reported. We describe a patient who was diagnosed with adrenal failure at 6 wk of age, but who experienced recovery of adrenal function of several months' duration later in infancy. He subsequently failed to undergo puberty because of hypogonadotropic hypogonadism of pituitary origin, and he was also diagnosed with schizophrenia in early adulthood. Molecular genetic analyses revealed a complex rearrangement in DAX1, including a 2.2-kb deletion spanning the entire second exon and a small 27-bp insertion. The putative protein encoded by this mutated gene is 429 amino acids long. The initial 389 residues probably correspond to the wild-type DAX-1 sequence, whereas the last 40 amino acids are presumably completely unrelated, being transcribed from the intronic sequence adjacent to exon 1. In vitro functional analyses confirm the absence of repressor activity exerted by such mutant protein. These studies expand the genotypic and phenotypic spectrum of DAX-1 insufficiency in humans.
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PMID:Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1. 1221 54

The family planning program is not restricted to population control; it also aims at the wider aspect of family welfare and human health. A large number of human diseases are due to genetic abnormalities. Examples are mongolism (Down's syndrome), ovarian dysgenesis (Turner's syndrome), nonfunctional testes (Klinefelter's syndrome), chronic myeloid leukemia, anemia, thalassemia, congenital malformations, and schizophrenia. Mental defects include imbeciles and the feebleminded. Constitutional diseases include diabetes, idiopathic epilepsy, pernicious anemia, and some thyroid abnormalities. Some chronic diseases also have a significant genetic component in their etiology, such as asthma and other allergies. About half of the stillbirths and embryonic wastage are suspected of being due to genetic malformations. Consanguinity has an important bearing on malformations and developmental anomalies. In India, where consanguinity is more frequent, malformations per 1000 births were 8.6 and 3.1 in 2 centers studied. Neural tube defects, harelip, cleft palate, and malformations of the gut and of limbs were prevalent. The population that needs genetic counseling is not large. Persons suffering from hereditary dise ases having a high risk of transmission should be advised to refrain fro m having children. A correct diagnosis, complete family history, and kn owledge of the literature on inherited disease is needed by the counselo rs. Family planning programs should include genetic counseling.
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PMID:Genetic counselling in family planning. 1225 20

Males with an extra-X chromosome (Klinefelter's syndrome) frequently, although not always, have an increased prevalence of psychiatric disturbances that range from attention deficit disorder in childhood to schizophrenia or severe affective disorders during adulthood. In addition, they frequently have characteristic verbal deficits. Thus, examining brain magnetic resonance imaging (MRI) scans of these individuals may yield clues to the influence of X chromosome genes on brain structural variation corresponding to psychiatric and cognitive disorders. Eleven adult XXY and 11 age matched XY male controls were examined with a structured psychiatric interview, battery of cognitive tests, and an MRI scan. Ten of eleven of the XXY men had some form of psychiatric disturbance, four of whom had auditory hallucinations compared with none of the XY controls. Significantly smaller frontal lobe, temporal lobe, and superior temporal gyrus (STG) cortical volumes were observed bilaterally in the XXY men. In addition, diffusion tensor imaging (DTI) of white matter integrity resulted in four regions of reduced fractional anisotropy (FA) in XXY men compared with controls, three in the left hemisphere, and one on the right. These correspond to the left posterior limb of the internal capsule, bilateral anterior cingulate, and left arcuate bundle. Specific cognitive deficits in executive functioning attributable to frontal lobe integrity and verbal comprehension were noted. Thus, excess expression of one or more X chromosome genes influences both gray and white matter development in frontal and temporal lobes, as well as white matter tracts leading to them, and may in this way contribute to the executive and language deficits observed in these adults. Future prospective studies are needed to determine which gene or genes are involved and whether their expression could be modified with appropriate treatments early in life. Brain expressed genes that are known to escape inactivation on extra-X chromosomes would be prime candidates.
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PMID:Klinefelter's syndrome (XXY) as a genetic model for psychotic disorders. 1572 33

Abnormalities in emotion processing and in structure of the amygdala have consistently been documented in schizophrenia. A major question is whether amygdala abnormalities reflect a genetic vulnerability for the disease. In the present paper, we reviewed Magnetic Resonance Imaging (MRI) studies that reported amygdala measures in several high-risk populations: subjects from the general population with subclinical schizophrenia symptoms and relatives of schizophrenia patients. In addition, we reviewed the evidence regarding Klinefelter syndrome (characterised by an additional X-chromosome), which has also been related to an increased risk for schizophrenia. Overall, the evidence points to structural abnormalities of the amygdala in individuals at increased risk for schizophrenia. Although the genetic basis of amygdala deficits remains unclear, abnormalities (of genes) on the X-chromosome might play a role as suggested by the evidence from individuals with sex chromosome aneuploidies. We propose that amygdala abnormalities are an endophenotype in schizophrenia and may account for subtle emotional processing deficits that have been described in these high-risk groups.
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PMID:Neurobiology of emotion and high risk for schizophrenia: role of the amygdala and the X-chromosome. 1582 May 45

Studying Klinefelter syndrome (47,XXY), a genetically defined disorder characterized by the presence of an additional X chromosome, can reveal insights into genotype-phenotype associations. Increased vulnerability to psychiatric disorders characterized by difficulties in social interactions, such as schizophrenia and autism, has been reported for this population. The reported social difficulties in 47,XXY men may arise as a consequence of impairments in the processing of social and emotional information. The present study is the first investigation of social-emotional information processing in this X chromosomal disorder. 32 Klinefelter men and 26 men from the general population, with the groups matched for age, educational level and I.Q., participated in the study. Several tasks were included, reflecting aspects of social-emotional information processing on levels of perception, experience and expression: labeling of facial expressions of emotion, emotion-cognition interactions in decision making and emotion regulation, that refers to subjective experience and identification of emotional arousal as well as verbal expression of emotions. A discrepancy between cognitive appraisal of emotions and emotional arousal was observed in Klinefelter syndrome. Taken together, Klinefelter men seem less accurate in perception of socio-emotional cues such as angry facial expressions, they are less able to identify and verbalize their emotions, but experience increased levels of emotional arousal, in comparison to the general population. Besides describing the social-emotional phenotype of this X chromosomal disorder, the present data may prove to be an important contribution to the development of more general models describing pathways to neuropsychiatric disorders characterized by social cognitive disturbances.
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PMID:X Chromosomal effects on social cognitive processing and emotion regulation: A study with Klinefelter men (47,XXY). 1660 40

Klinefelter's syndrome, characterised by a 47,XXY chromosomal pattern, has largely been associated with physical abnormalities. Here, we report high levels of schizophrenia-spectrum pathology in 32 men with this syndrome in comparison with 26 healthy controls. This may have implications for treatment of have implications for treatment of Klinefelter's syndrome and suggests that the X chromosome may be involved in the aetiology of schizophrenia.
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PMID:Klinefelter's syndrome (karyotype 47,XXY) and schizophrenia-spectrum pathology. 1747 Sep 66


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