Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Kallmann syndrome and paranoid schizophrenia: a rare combination.

ABSTRACT: Kallmann syndrome (KS) is a genetically heterogeneous and rare disorder characterised by the combination of hypothalamic hypogonadism and anosmia/hyposmia, a variable degree of intellectual disability and several somatic anomalies. In about one-third of the patients, mutations have been identified in at least seven different genes. Virtually no data are available about possible neuropsychiatric symptoms in KS. Here, a young adult male is described with a previous clinical diagnosis of KS and recent paranoid schizophrenia of which positive, but not negative symptoms, fully remitted upon treatment with antipsychotics. Neither genome-wide array analysis nor mutation analyses disclosed imbalances or mutations in any of presently known KS disease genes. This is the first report on a patient with KS and paranoid schizophrenia in whom extensive genetic analyses were performed. It is concluded that further studies are warranted in order to elucidate a possible increased risk for psychiatric symptoms in patients with KS.

SUBMITTER: Verhoeven WM

PROVIDER: S-EPMC3604460 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Kallmann syndrome and paranoid schizophrenia: a rare combination.

Verhoeven Willem M A WM Egger Jos I M JI Hovens Johannes E JE Hoefsloot Lies L

BMJ case reports 20130117

Kallmann syndrome (KS) is a genetically heterogeneous and rare disorder characterised by the combination of hypothalamic hypogonadism and anosmia/hyposmia, a variable degree of intellectual disability and several somatic anomalies. In about one-third of the patients, mutations have been identified in at least seven different genes. Virtually no data are available about possible neuropsychiatric symptoms in KS. Here, a young adult male is described with a previous clinical diagnosis of KS and rec ...[more]

PMID: 23329708

Similar Datasets

Kallmann syndrome.

Project description:The Kallmann syndrome (KS) combines hypogonadotropic hypogonadism (HH) with anosmia. This is a clinically and genetically heterogeneous disease. KAL1, encoding the extracellular glycoprotein anosmin-1, is responsible for the X chromosome-linked recessive form of the disease. Mutations in FGFR1 or FGF8, encoding fibroblast growth factor receptor-1 and fibroblast growth factor-8, respectively, underlie an autosomal dominant form with incomplete penetrance. Finally, mutations in PROKR2 and PROK2, encoding prokineticin receptor-2 and prokineticin-2, have been found in heterozygous, homozygous, and compound heterozygous states. These two genes are likely to be involved both in monogenic recessive and digenic/oligogenic KS transmission modes. Notably, mutations in any of the above-mentioned KS genes have been found in less than 30% of the KS patients, which indicates that other genes involved in the disease remain to be discovered.

| S-EPMC2986064 | biostudies-literature

Seizure Associated Takotsubo Syndrome: A Rare Combination.

Project description:Takotsubo cardiomyopathy (TC) is increasingly recognized in neurocritical care population especially in postmenopausal females. We are presenting a 61-year-old African American female with past medical history of epilepsy, bipolar disorder, and hypertension who presented with multiple episodes of seizures due to noncompliance with antiepileptic medications. She was on telemetry which showed ST alarm. Electrocardiogram (ECG) was ordered and showed ST elevation in anterolateral leads and troponins were positive. Subsequently Takotsubo cardiomyopathy was diagnosed by left ventriculography findings and absence of angiographic evidence of obstructive coronary artery disease. Echocardiogram showed apical hypokinesia, ejection fraction of 40%, and systolic anterior motion of mitral valve with hyperdynamic left ventricle, in the absence of intracoronary thrombus formation in the angiogram. Electroencephalography showed evidence of generalized tonic-clonic seizure. She was treated with supportive therapy. This case illustrates importance of ECG in all patients with seizure irrespective of cardiac symptoms as TC could be the cause of Sudden Unexpected Death in Epilepsy (SUDEP) and may be underdiagnosed and so undertreated.

| S-EPMC5546119 | biostudies-other

Structural and functional retinal alterations in patients with paranoid schizophrenia.

Project description:Ophthalmological methods have increasingly raised the interest of neuropsychiatric specialists. While the integrity of the retinal cell functions can be evaluated with the electroretinogram (ERG), optical coherence tomography (OCT) allows a structural investigation of retinal layer thicknesses. Previous studies indicate possible functional and structural retinal alterations in patients with schizophrenia. Twenty-five patients with paranoid schizophrenia and 25 healthy controls (HC) matched for age, sex, and smoking status participated in this study. Both, ERG and OCT were applied to obtain further insights into functional and structural retinal alterations. A significantly reduced a-wave amplitude and thickness of the corresponding para- and perifoveal outer nuclear layer (ONL) was detected in patients with paranoid schizophrenia with a positive correlation between both measurement parameters. Amplitude and peak time of the photopic negative response (PhNR) and thickness of the parafoveal ganglion cell layer (GCL) were decreased in patients with schizophrenia compared to HC. Our results show both structural and functional retinal differences between patients with paranoid schizophrenia and HC. We therefore recommend the comprehensive assessment of the visual system of patients with schizophrenia, especially to further investigate the effect of antipsychotic medication, the duration of illness, or other factors such as inflammatory or neurodegenerative processes. Moreover, longitudinal studies are required to investigate whether the functional alterations precede the structural changes.

| S-EPMC9508100 | biostudies-literature

Secondary association of PDLIM5 with paranoid schizophrenia in Emirati patients.

Project description:Schizophrenia is a clinically and genetically heterogeneous disorder of unknown etiology. PDLIM5 variants have been linked to schizophrenia and other related neuropsychiatric disorders and upregulated in the brain of schizophrenia patients suggesting a possible pathogenic role in disease progression. The aim of this study is to examine the potential association of schizophrenia in Emirati patients with previously reported variants in PDLIM5, PICK1, NRG3 or DISC1 genes. Consequently, we found a secondary association between PDLIM5 variants and the paranoid subtype of schizophrenia in Emirati Arabs suggesting that PDLIM5 may represent a determinate/marker for schizophrenia subtype specification. However, no associations were found with variants in PICK1, NRG3 or DISC1 genes.

| S-EPMC4722529 | biostudies-literature

Gardner's syndrome, a rare combination in surgical practice.

Project description:A 45-year-old man presented to the emergency ward with features of intestinal obstruction of 2?days duration. On admission, there was abdominal distension and multiple sessile polyps found on digital rectal examination. In addition, a soft tissue swelling near the elbow and a bony swelling over scalp were noted. Abdominal radiography revealed gaseous distension of the small and large bowel, and ultrasound revealed diffuse, gas-filled bowel with sluggish peristalsis. The obstruction failed to resolve with conservative measures and at emergency laparotomy an irregular hard recto-sigmoid junction mass was identified. A defunctioning transverse loop colostomy was undertaken and the abdomen closed. During recovery, a colonoscopy was performed and a malignant appearing lesion was identified 15?cm proximal to the anal verge. Further per-stomal colonoscopy revealed multiple sessile polyps from the ileo-caecal valve to the descending colon. The cutaneous and abdominal findings were consistent with a rare acute presentation of Gardner's syndrome.

| S-EPMC4039798 | biostudies-other

Ataxia and focal dystonia in Kallmann syndrome.

Project description:A case of Kallmann syndrome (KS) associated with rare neurological manifestations is presented. Cerebellar ataxia probably caused by a small posterior fossa and a focal dystonia affecting the left lower limb expand the spectrum of neurological manifestations occurring in KS. Further studies are needed to better understand these manifestations.

| S-EPMC4736517 | biostudies-other

Mutations in FEZF1 cause Kallmann syndrome.

Project description:Gonadotropin-releasing hormone (GnRH) neurons originate outside the CNS in the olfactory placode and migrate into the CNS, where they become integral components of the hypothalamic-pituitary-gonadal (HPG) axis. Disruption of this migration results in Kallmann syndrome (KS), which is characterized by anosmia and pubertal failure due to hypogonadotropic hypogonadism. Using candidate-gene screening, autozygosity mapping, and whole-exome sequencing in a cohort of 30 individuals with KS, we searched for genes newly associated with KS. We identified homozygous loss-of-function mutations in FEZF1 in two independent consanguineous families each with two affected siblings. The FEZF1 product is known to enable axons of olfactory receptor neurons (ORNs) to penetrate the CNS basal lamina in mice. Because a subset of axons in these tracks is the migratory pathway for GnRH neurons, in FEZF1 deficiency, GnRH neurons also fail to enter the brain. These results indicate that FEZF1 is required for establishment of the central component of the HPG axis in humans.

| S-EPMC4157145 | biostudies-literature

Association of HSPA1B Polymorphisms with Paranoid Schizophrenia in a Polish Population.

Project description:This study aimed to find the potential association between HSPA1B polymorphisms and risk of paranoid schizophrenia, clinical variables of the disease, and suicidal behavior. A total of 901 unrelated Polish subjects of Caucasian origin (377 schizophrenia patients and 524 controls) were recruited. Four single-nucleotide polymorphisms (SNP) were genotyped using PCR-RFLP (rs539689, rs9281590) and TaqMan assays (rs263979, rs6547452). A strong tendency towards statistical significance (p = 0.051) was observed in rs539689 allele distribution between patients and controls in overall study subjects. After stratification according to gender, we found that rs539689 was significantly associated with schizophrenia in males, but not in females. The minor allele C had a protective effect in males [OR 0.73 (95% CI 0.61-0.88, p < 0.05)]. In addition, two SNPs (rs539689, rs9281590) were significantly associated with PANSS scores. Another important finding was a strong significant association between the HSPA1B rs539689 polymorphism and attempted suicide in schizophrenic patients. The C/C genotype and C allele were protective against suicidal behavior in entire sample (p < 0.001), in males (p < 001), and in females (p < 0.05), although associations were weaker than in males. Our findings support that HSPA1B gene may be involved in susceptibility to schizophrenia and clinical presentation of the disease in a sex-dependent manner, and may play a role in suicidal behavior in the Polish population of schizophrenic patients. Further independent analyses in different populations should be performed to clarify the role of HSPA1B in the pathogenesis of schizophrenia.

| S-EPMC7021735 | biostudies-literature

Genetic Overlap between Holoprosencephaly and Kallmann Syndrome.

Project description:Patients with Kallmann syndrome (KS; congenital hypogonadotropic hypogonadism and decreased/absent sense of smell), septo-optic dysplasia (SOD), or holoprosencephaly (HPE) reportedly have midline defects. In this study, we investigate a genetic overlap between KS, SOD, and HPE. Nineteen subjects (18 males, 1 female) with KS and without mutations in the known KS genes were screened for mutations in SOX2, SHH, SIX3,TGIF1,TDGF1,FOXH1,GLI2, and GLI3. One male carried 2 heterozygous missense changes, one in SIX3 (c.428G>A, p.G143D) and the other in GLI2 (c.2509G>A, p.E837K). Both of these genes have been implicated in the etiology of HPE and neither of these changes were present in 200 control subjects. Other variants found among the subjects were known polymorphisms. KS and HPE may display a genetic overlap. The involvement of genes implicated in the etiology of midline defects in patients with KS warrants further studies.

| S-EPMC3398826 | biostudies-literature

Identification of HESX1 mutations in Kallmann syndrome.

Project description:ObjectiveTo determine whether HESX1 mutations are present in patients with idiopathic hypogonadotropic hypogonadism (IHH)/Kallmann syndrome (KS).DesignPolymerase chain reaction-based DNA sequencing was performed on 217 well-characterized IHH/KS patients. Putative missense mutations were analyzed by sorting intolerant from tolerant (SIFT) and Clustal ?.SettingAcademic medical center.Patient(s)Two hundred seventeen patients with IHH/KS and 192 controls.Intervention(s)Deoxyribonucleic acid was extracted from patients and controls; genotype/phenotype comparisons were made.Main outcome measure(s)Deoxyribonucleic acid sequence of HESX1, SIFT analysis, and ortholog alignment.Result(s)Two novel heterozygous missense mutations (p.H42Y and p.V75L) and previously reported heterozygous missense mutation p.Q6H in HESX1 were identified in 3 of 217 patients (1.4%). All were males with KS. Both p.Q6H and p.H42Y were predicted to be deleterious by SIFT, whereas p.V75L was conserved in 8 of 9 species. No other IHH/KS gene mutations were present.Conclusion(s)HESX1 mutations may cause KS in addition to more severe phenotypes. Our findings expand the phenotypic spectrum of HESX1 mutations in humans, thereby broadening its role in development.

| S-EPMC3888813 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data