Disease relevance of DFN2

• CONCLUSIONS: Congenital hearing loss may be associated with facial nerve anomalies [1].
• Letter: Congenital rubella and autistic behavior [2].
• Images in clinical medicine. Congenital long-QT syndrome [3].
• The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. International Congenital Lipoid Adrenal Hyperplasia Consortium [4].
• Images in clinical medicine. Congenital hemangioma [5].

Psychiatry related information on DFN2

• Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation [6].
• Too Many Trees to See the Forest: Performance, Event-related Potential, and Functional Magnetic Resonance Imaging Manifestations of Integrative Congenital Prosopagnosia [7].
• To evaluate the association of acute and common chronic diseases, alcohol consumption and smoking during pregnancy with reduction limb defects (RLD) 453 cases of RLD from the Finnish Registry of Congenital Malformations were studied [8].
• CONCLUSION: Congenital ocular motor apraxia can be inherited as an autosomal dominant trait [9].
• METHODOLOGY: Comparison of newborn infants (without any defects) born to mothers with or without panic disorder in the population-based large data set of the Hungarian Case-Control Surveillance System of Congenital Abnormalities [10].

High impact information on DFN2

• BACKGROUND: Congenital lipoid adrenal hyperplasia results in severe impairment of steroid biosynthesis in the adrenal glands and gonads that is manifested both in utero and postnatally [4].
• Current concepts in genetics. Congenital malformations [11].
• Letter: Congenital folate deficiency [12].
• We studied the first-trimester exposure to Bendectin for several major categories of birth defects among infants ascertained through the Metropolitan Atlanta Congenital Defects Program from 1968 to 1978 [13].
• BACKGROUND & AIMS: Congenital central hypoventilation syndrome, an unexplained disorder of the central control of breathing that may reflect widespread dysfunction of brainstem structures, is regarded as a form of neuro cristopathy [14].

Chemical compound and disease context of DFN2

• Clinical manifestations, management, and molecular genetics in congenital factor VII deficiency: the International Registry on Congenital Factor VII Deficiency (IRF7) [15].
• Single amino acid substitutions in the reactive site of antithrombin leading to thrombosis. Congenital substitution of arginine 393 to cysteine in antithrombin Northwick Park and to histidine in antithrombin Glasgow [16].
• METHODS AND RESULTS: In a retrospective study, 158 adult patients with a diagnosis of tetralogy of Fallot, who had undergone a PVR after initial total correction in childhood, were identified from the CONCOR (CONgenital CORvitia) registry [17].
• SUMMARY: Congenital microcephaly, seizures and severe psychomotor retardation are symptoms of serine deficiency and can be treated with supplementation of L-serine, sometimes combined with glycine [18].
• METHODS: Case control study within the Hungarian Case Control Surveillance of Congenital Abnormalities, 1980-1996; based on 22 865 new-born infants or foetuses with congenital abnormalities, and 38 151 babies without any detected congenital abnormalities (control group) [19].

Biological context of DFN2

• All phenotypes of this family are clinically compatible with non-syndromic sensorineural deafness (DFN2) [20].
• Analysis of hereditary deafness in this family refines the DFN2 locus to a 9.2 Mb region in chromosome X band q21 between DXS990 and DXS106 [21].
• The purpose of this study was to determine exercise tolerance and cardiac response to exercise for a large cohort of adult subjects with aortic stenosis, pulmonary stenosis, or ventricular septal defect participating in the Second Natural History Study of Congenital Heart Defects (NHS-2) [22].
• We used data from the Metropolitan Atlanta Congenital Defects Program, a population based birth defects registry, to examine the secular trends and descriptive epidemiology of pyloric stenosis in a North American city [23].
• Using the data base of the Latin-American Collaborative Study of Congenital Malformations (ECLAMC), for the years 1978 to 1983, on 349 470 births (live and stillbirths), a crude prevalence rate of 2.3/10 000 was observed [24].

Anatomical context of DFN2

• Image of the month. Congenital colonic duplication, sigmoid volvulus, Meckel's diverticulum, and emphysematous cystitis are considered in the differential diagnosis before surgery [25].
• BACKGROUND: Congenital coronary artery anomalies are not uncommonly associated with sudden death in young athletes, the catastrophic event probably provoked by myocardial ischemia [26].
• METHODS: This is a review of patients with Eisenmenger syndrome seen at the Toronto Congenital Cardiac Centre for Adults, Canada. Patients underwent a contrast-enhanced computed tomographic (CT) scan of the thorax [27].
• Novel Fibroblast Growth Factor Receptor 1 Mutations in Patients with Congenital Hypogonadotropic Hypogonadism with and without Anosmia [28].
• RESULTS: Congenital urethroperineal fistula mimics the hypospadiac form of urethral duplication, except the normally positioned dorsal channel is the normal urethra [29].

Associations of DFN2 with chemical compounds

• Letter: Congenital malformations and vinyl chloride [30].
• Letter: Congenital anomalies and clomiphene [31].
• Mutations in the Translated Region of the Lactase Gene (LCT) Underlie Congenital Lactase Deficiency [32].
• Molecular Model of Human CYP21 Based on Mammalian CYP2C5: Structural Features Correlate with Clinical Severity of Mutations Causing Congenital Adrenal Hyperplasia [33].
• Vascular Reactivity in Congenital Hypogonadal Men before and after Testosterone Replacement Therapy [34].

Regulatory relationships of DFN2

• Methods: Congenital non-autoimmune hyperthyroidism is caused by activating germline mutations in the thyrotropin receptor (TSHR) gene [35].

Other interactions of DFN2

• DFN2 represents a locus for congenital profound sensorineural hearing loss that has yet to be mapped [36].
• BACKGROUND: Congenital nephrotic syndrome of the Finnish type (CNF) is an autosomal recessive disorder mainly caused by mutations in the nephrin gene (NPHS1) [37].
• BACKGROUND: Congenital atrial standstill has been linked to SCN5A [38].
• Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic [39].
• We thus examined the human SHH gene in 220 newborn infants with nonsyndromic oral clefts registered by the Estudio Colaborativo Latinoamericano de Malformaciones Congenitas: ECLAMC (Latin American Collaborative Study of Congenital Malformations) [40].

Analytical, diagnostic and therapeutic context of DFN2

• Feasibility of neonatal screening for toxoplasma infection in the absence of prenatal treatment. Danish Congenital Toxoplasmosis Study Group [41].
• Guidelines for pediatric therapeutic cardiac catheterization. A statement for health professionals from the Committee on Congenital Cardiac Defects of the Council on Cardiovascular Disease in the Young, the American Heart Association [42].
• Results of the location and recruitment efforts and comparisons of responses from patients who cooperated at different levels in the Second Natural History Study of Congenital Heart Defects are included because they influenced the choice of analytic methods and are essential to the generalizability of the results to the entire study cohort [43].
• As part of the Second Natural History Study of Congenital Heart Defects (NHS-2), 24-hour ambulatory ECG monitoring was performed for full participants in the study [44].
• Forty-seven adult patients were seen late after the Fontan operation at the Toronto Congenital Cardiac Centre for Adults [45].

References