共查询到20条相似文献,搜索用时 31 毫秒
1.
S Naganawa T Kodama H Aburatani A Matsumoto H Itakura Y Takashima M Kawamura Y Muto 《Biochemical and biophysical research communications》1992,182(1):99-104
Normotriglyceridemic abetalipoproteinemia is a rare familial disorder characterized by an isolated deficiency of apoB-100. We have previously reported a patient with this disease, who had normal apoB-48 but no apoB-100. To elucidate the genetic abnormalities in this family, we studied the linkage of apoB gene using three genetic markers. The proband and her affected brother showed completely different apoB gene alleles, suggesting that the apoB gene itself is not related to this disorder in this family. By contrast, an American case had a point substitution in the apoB gene generating an in-frame stop codon. These results indicate that this disorder can be caused by defect(s) of either an apoB gene or other genes. 相似文献
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Ceylan A Peker E Dogan M Tuncer O Kirimi E 《Genetic counseling (Geneva, Switzerland)》2011,22(1):69-74
Baller-Gerold Syndrome (BGS) is a rare autosomal recessive disorder that is apparent at birth. The disorder is characterized by distinctive malformations of the skull and facial area and bones of the forearms and hands. We report a 4 year old boy in whom the clinical features of craniosynostosis and bilateral absent thumbs and radii led to a diagnosis of Baller-Gerold syndrome. Physical examination revealed that the heart was localized to the right side. Echocardiography confirmed dextrocardia. Dextrocardia has not previously been reported with Baller-Gerold syndrome. To the best of our knowledge, this is the first reported case of Baller-Gerold syndrome associated with dextrocardia. 相似文献
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Shabeesh Balan Kazuo Yamada Yoshimi Iwayama Tomoko Toyota Tetsuo Ohnishi Motoko Maekawa Manabu Toyoshima Yasuhide Iwata Katsuaki Suzuki Mitsuru Kikuchi Hiroshi Ujike Toshiya Inada Hiroshi Kunugi Norio Ozaki Nakao Iwata Shinichiro Nanko Tadafumi Kato Takeo Yoshikawa 《Gene》2013
The early growth response gene 2 (EGR2) has been recently reported to be associated with bipolar disorder in the Korean population. However replication studies in independent cohorts of same and different ethnicities are essential for establishing the credibility of a genotype–phenotype association. With this notion, in the present study we have performed a replication study of the reported association of SNPs in EGR2 in a case–control study comprising of 867 unrelated Japanese bipolar disorder patients and 895 age-, sex- and ethnicity-matched controls. Results showed no significant differences in allele and genotype frequencies of EGR2 SNPs between bipolar disorder patients and controls and also in a sex-stratified genetic analysis. The haplotype and meta-analyses also showed no significant association with bipolar disorder. In conclusion, this is the first replication study of the previously reported association of EGR2 with bipolar disorder in a larger sample set and the results showed that the EGR2 gene is unlikely to contribute to the susceptibility of bipolar disorder in a Japanese cohort. 相似文献
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Shimpei Baba Yasukazu Yamada Eri Takeshita Noriko Nomura Kenichiro Yamada 《Nucleosides, nucleotides & nucleic acids》2017,36(1):1-6
Lesch-Nyhan disease (LND) is a rare X-linked recessive disorder caused by deficiency of the purine salvage enzyme hypoxanthine–guanine phosphoribosyltransferase (HPRT), encoded by the HPRT1. To date, nearly all types of mutations have been reported in the whole gene; however, duplication mutations are rare. We here report the case of a 9-month-old boy with LND. He showed developmental delay, athetosis, and dystonic posture from early infancy, but no self-injurious behaviors. Hyperuricemia was detected, and his HPRT enzyme activity in erythrocytes was completely deficient. A novel duplication mutation (c.372dupT, c.372_374 TTT > c.372_375 TTTT) was identified in exon 4 of the HPRT1, which causes aberrant splicing. This is the third case of a duplication mutation in the HPRT1 that causes splicing error. 相似文献
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Y H Gulcan N Duman A Kumral B Sa?olLebe S Kavuk?u D Er?al M Celilo?lu H Ozkan 《Genetic counseling (Geneva, Switzerland)》2001,12(3):263-267
Cerebrohepatorenal malformation is a rare familial disorder characterized by typical renal lesions combined with Dandy-Walker malformation, and congenital hepatic fibrosis. In this case report, a male premie with the diagnosis of cerebrorenal syndrome or so called Goldston syndrome is presented. Besides the rarity of this syndrome, this case is the second reported patient diagnosed prenatally. 相似文献
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A newborn child was noted to have an ulcerated lesion on the vertex of her scalp, which was diagnosed as aplasia cutis congenita. As this disorder is relatively rare and frequently misdiagnosed, this case is reported and the relevant literature reviewed. 相似文献
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The whistling face syndrome (Freeman-Sheldon Syndrome) is a rare disorder characterized by typical face and limb abnormalities. A wide range of clinical findings have been reported. We report unusual skin dimples in a sporadic case with the whistling face syndrome. 相似文献
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Gabriel Ercoli María Paz Bidondo Blanca Cristina Senra Boris Groisman 《Birth defects research. Part A, Clinical and molecular teratology》2014,100(9):726-729
Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations in the fibroblast growth factor receptor 2 and characterized by coronal craniosynostosis, symmetric bone and skin syndactyly of hands and feet, and craniofacial dysmorphic features. The estimated prevalence of this syndrome is 10 to 15.5 cases per 1,000,000 live births. Apert syndrome has considerable clinical variability. We present a case of Apert syndrome and associated features reported to the National Registry of Congenital Anomalies of Argentina (RENAC). The reported case had omphalocele, esophageal atresia, and mega cisterna magna. The last two signs were reported several times as part of the clinical presentation of Apert syndrome. To our knowledge, this is the second reported case diagnosed with Apert syndrome associated with omphalocele. Birth Defects Research (Part A), 100:726–729, 2014. © 2014 Wiley Periodicals, Inc. 相似文献
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Intrinsic disorder in transcription factors 总被引:8,自引:0,他引:8
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Dactylitis commonly occurs in patients with homozygous hemoglobin S disease (sickle cell anemia), sickle cell-hemoglobin C disease or sickle cell-β-thalassemia. A case is reported of dactylitis associated with sickle cell trait, a very rare occurrence. It may be that in this patient the disorder was secondary to severe diarrhea and dehydration. 相似文献
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K. Zerres H. Schüler U. Gembruch R. Bald M. Hansmann G. Schwanitz 《Human genetics》1992,89(3):301-304
Summary Choroid plexus cysts were diagnosed in 25 out of 823 fetuses with prenatally diagnosed abnormalities (growth retardation/malformations). Among these, 5 revealed a chromosomal disorder (4 cases with trisomy 18 and one case with a translocation trisomy 21). Additional abnormalities, such as growth retardation, holoprosencephaly, hydrocephalus and club foot, were found in 6 out of the 20 fetuses with no chromosomal abnormality. All fetuses with a chromosomal disorder revealed further typical prenatally recognizable abnormalities. Our observation indicates that prenatally diagnosed choroid plexus cysts should be considered as an indication for prenatal chromosomal diagnosis, although the risk of there being an underlying chromosomal disorder is low in cases with no additional abnormalities. 相似文献
13.
A female newborn presenting multiple congenital anomalies with acrocephalosynanky, external auditory canals atresia, vertebral anomalies, is described as being affected of an Antley-Bixler Syndrome. The authors compare this case with the eight others reported with this disorder, of whom two are sisters. 相似文献
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目的:探索富亮氨酸胶质瘤失活1蛋白(LGI1)抗体相关自身免疫性脑炎的临床特点及治疗。方法:报道l例LG I1抗体阳性相关自身免疫性脑炎的临床资料,并结合相关文献讨论该病的临床病理特点。结果:老年男性,亚急性起病,反复多次发作并进行性加重,以近记忆下降、癫痫、认知和睡眠障碍为主要表现;头颅MRI示脑萎缩;LGI1抗体阳性。结论:本病患者具有认知功能、睡眠障碍及癫痫等,血清和脑脊液中抗LGI1抗体阳性,但无低钠血症,头颅影像学检查正常;急性发作期给予免疫抑制剂治疗后可获良好效果。 相似文献
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A case is reported of fatal aplastic anemia developing in a 50-year-old woman who received lithium carbonate in the generally accepted dosage for a manic-depressive disorder. The serum lithium had been determined at regular intervals and never exceeded what is considered a safe level. Patients for whom lithium is prescribed should have periodic hematologic examinations. 相似文献
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Summary An eighth case of terminal deletion of the long arm of chromosome eleven (11q-) is reported to emphasize both the distinctive facies, but otherwise non-specific nature of this disorder, and the female preponderance of affected patients. Growth and mental retardation, congenital heart disease and telecanthus are the other most constant features. The authors' experience with 3 unrelated cases in less than 2 years suggests that this syndrome is underdiagnosed. 相似文献
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Caksen H Cesur Y Kirimi E Uner A Arslan S Celebi V Tuncer O Odabas D 《Genetic counseling (Geneva, Switzerland)》2002,13(2):179-182
Allgrove syndrome (triple-A syndrome) is an autosomal recessive disorder characterized by adrenocorticotropin hormone-resistant adrenal insufficiency, achalasia and alacrima. Aside from the classic features of the syndrome, several abnormalities including mainly neurological abnormalities have been reported in the syndrome. Herein, we presented a case of Allgrove syndrome associated with left renal ectopla. To the best of our knowledge renal abnormality in Allgrove syndrome has not been reported in the literature until now. We think that ectopic kidney diagnosed in our patient is coincidental because the incidence of renal ectopia is high, approximately 1 in 900 in population. 相似文献
18.
Radonić E Rados M Kalember P Bajs-Janović M Folnegović-Smalc V Henigsberg N 《Collegium antropologicum》2011,35(Z1):249-252
The reduction of hippocampal volume was frequently reported in schizophrenia, but not in bipolar disorder This volume reduction is associated with clinical features of schizophrenia, in particular with working and verbal memory impairments. Schizoaffective disorder, as a specific disorder sharing clinical features of both schizophrenia and bipolar disorder is rarely analyzed as a separate disorder in neurobiological studies. The aim of this study was to compare hippocampal volumes in separate groups of patients with schizophrenia, schizoaffective and bipolar disorder. Hippocampal volumes were estimated using high resolution magnetic resonance imaging in 60 subjects, 15 subjects in each patient and one healthy volunteer (control) group. There were no significant differences in hippocampal volume between bipolar disorder and control group. Hippocampal volume was statistically significantly reduced in the group of patients with schizophrenia and schizoaffective disorder, compared to either bipolar disorder or control group, thus supporting the hypothesis that hippocampal volume reduction could be considered as a possible neurobiological basis for clinical aspects of schizophrenia and schizoaffective disorder associated with working and verbal memory impairment. 相似文献
19.
The involvement of HLA genes in the susceptibility to coeliac disease (CD) has been well documented and represents the only consistently observed genetic feature of this multifactorial disease. In the present study, the search for new susceptibility genes has been devoted to a candidate region suggested by the association of CD with Williams syndrome (WS). This genetic disorder is due to a deletion in the 7q11.23 region that includes the elastin (ELN) gene. An increased prevalence of CD in WS patients has been previously reported and a case of CD-WS is also described in the present study. We used the ELN17 microsatellite marker mapped within the ELN gene to look for a possible contribution of this region to the susceptibility to CD. The analysis of 74 Italian CD families provided no evidence of association with the ELN17 marker. 相似文献
20.
Xiaojing Zheng F. Yesim Demirci M. Michael Barmada Gale A. Richardson Oscar L. Lopez Robert A. Sweet M. Ilyas Kamboh Eleanor Feingold 《PloS one》2014,9(11)
Epidemiological and genetic studies suggest that schizophrenia and autism may share genetic links. Besides common single nucleotide polymorphisms, recent data suggest that some rare copy number variants (CNVs) are risk factors for both disorders. Because we have previously found that schizophrenia and psychosis in Alzheimer''s disease (AD+P) share some genetic risk, we investigated whether CNVs reported in schizophrenia and autism are also linked to AD+P. We searched for CNVs associated with AD+P in 7 recurrent CNV regions that have been previously identified across autism and schizophrenia, using the Illumina HumanOmni1-Quad BeadChip. A chromosome 16p11.2 duplication CNV (chr16: 29,554,843-30,105,652) was identified in 2 of 440 AD+P subjects, but not in 136 AD subjects without psychosis, or in 593 AD subjects with intermediate psychosis status, or in 855 non-AD individuals. The frequency of this duplication CNV in AD+P (0.46%) was similar to that reported previously in schizophrenia (0.46%). This duplication CNV was further validated using the NanoString nCounter CNV Custom CodeSets. The 16p11.2 duplication has been associated with developmental delay, intellectual disability, behavioral problems, autism, schizophrenia (SCZ), and bipolar disorder. These two AD+P patients had no personal of, nor any identified family history of, SCZ, bipolar disorder and autism. To the best of our knowledge, our case report is the first suggestion that 16p11.2 duplication is also linked to AD+P. Although rare, this CNV may have an important role in the development of psychosis. 相似文献