American Journal of Medical Genetics最新文献_第2页

Clinical and genetic heterogeneity of Seckel syndrome. 塞克尔综合征的临床和遗传异质性。

American Journal of Medical Genetics Pub Date : 2002-11-01 DOI: 10.1002/ajmg.10677

L Faivre, M Le Merrer, S Lyonnet, H Plauchu, N Dagoneau, A B Campos-Xavier, J Attia-Sobol, A Verloes, A Munnich, V Cormier-Daire

引用次数: 65

Male limited association of the dopamine receptor D2 gene TaqI a polymorphism and alcohol dependence. 男性多巴胺受体D2基因TaqI多态性与酒精依赖的有限关联。

American Journal of Medical Genetics Pub Date : 2002-11-01 DOI: 10.1002/ajmg.10712

Frédéric Limosin, Philip Gorwood, Jean-Yves Loze, Caroline Dubertret, Laurent Gouya, Jean-Charles Deybach, Jean Adès

{"title":"Male limited association of the dopamine receptor D2 gene TaqI a polymorphism and alcohol dependence.","authors":"Frédéric Limosin, Philip Gorwood, Jean-Yves Loze, Caroline Dubertret, Laurent Gouya, Jean-Charles Deybach, Jean Adès","doi":"10.1002/ajmg.10712","DOIUrl":"https://doi.org/10.1002/ajmg.10712","url":null,"abstract":"Association studies of the TaqI A allele of the dopamine receptor D2 (DRD2) gene with alcohol dependence have produced conflicting findings. Although a wide series of clinical features have been considered in the different association studies performed, very few studies specifically analyzed the role of gender. We compared the TaqI A polymorphisms of the DRD2 gene in 120 French Caucasian alcohol-dependent inpatients (62 males and 58 females) and 107 healthy ethnically matched controls (66 males and 41 females). We observed that 55% of alcohol-dependent males have at least one A1 allele, a prevalence that is significantly above that observed in the control males (38%). On the contrary, no differences were found in females between the alcohol-dependent inpatients and controls for the A1 allele prevalence. In our sample, this male-specific association was not explained by gender specificities of alcohol dependence, such as age at onset and severity measures (mean numbers of social, somatic, and withdrawal complications). On the other hand, alcohol-dependent women with the A1 allele reported more frequently a major depressive disorder (70% vs. 40%, P = 0.03). We thus replicated the allelic association of the A1 allele of the DRD2 gene with alcohol dependence, but showed a male-limited effect of this \"vulnerability allele.\" Recent evidence for gender difference in dopamine D2-like receptor levels and affinity may explain this discrepancy.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"112 4","pages":"343-6"},"PeriodicalIF":0.0,"publicationDate":"2002-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ajmg.10712","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22063876","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 33

Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation. 13号染色体长臂部分缺失与前脑畸形和Dandy-Walker畸形有关。

American Journal of Medical Genetics Pub Date : 2002-11-01 DOI: 10.1002/ajmg.10659

W Michael McCormack, Joseph J Shen, Stacey M Curry, Sue Ann Berend, Catherine Kashork, Halit Pinar, Lorraine Potocki, Bassem A Bejjani

{"title":"Partial deletions of the long arm of chromosome 13 associated with holoprosencephaly and the Dandy-Walker malformation.","authors":"W Michael McCormack, Joseph J Shen, Stacey M Curry, Sue Ann Berend, Catherine Kashork, Halit Pinar, Lorraine Potocki, Bassem A Bejjani","doi":"10.1002/ajmg.10659","DOIUrl":"https://doi.org/10.1002/ajmg.10659","url":null,"abstract":"Two patients with partial deletions of the long arm of chromosome 13, del(13)(13q21-q34) and del(13)(13q22-q33), respectively, multiple congenital anomalies including holoprosencephaly (HPE) and the Dandy-Walker malformation (DWM) are described. The occurrence of HPE and the DWM in both of these patients suggests that, in addition to ZIC2, which is important for normal development of the forebrain, there is at least one other dosage-sensitive gene in 13q22-q33 that plays an important role in brain development. The DWM is anatomically and developmentally distinct from HPE. The presence of a DWM in each of these two patients with partial deletions of the long arm of chromosome 13 suggests that haploinsufficiency at a locus in 13q22-q33 may cause this anomaly. These findings suggest that microdeletions in 13q22-q33 may be found in a proportion of patients with an apparently isolated DWM. Therefore, careful high-resolution cytogenetic analysis (550 band level or greater) of 13q22-q33 may be considered in these patients. Furthermore, future molecular studies of this region may reveal candidate gene loci for the DWM.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"112 4","pages":"384-9"},"PeriodicalIF":0.0,"publicationDate":"2002-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ajmg.10659","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22063217","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 47

Analysis of craniofacial development in children with hypohidrotic ectodermal dysplasia. 少汗型外胚层发育不良患儿颅面发育分析。

American Journal of Medical Genetics Pub Date : 2002-11-01 DOI: 10.1002/ajmg.10654

Euphemia LaRee Johnson, Michael W Roberts, Albert D Guckes, L'Tanya J Bailey, Ceib L Phillips, J Timothy Wright

{"title":"Analysis of craniofacial development in children with hypohidrotic ectodermal dysplasia.","authors":"Euphemia LaRee Johnson, Michael W Roberts, Albert D Guckes, L'Tanya J Bailey, Ceib L Phillips, J Timothy Wright","doi":"10.1002/ajmg.10654","DOIUrl":"https://doi.org/10.1002/ajmg.10654","url":null,"abstract":"Ectodermal dysplasias (ED) are a heterogeneous group of inheritable disorders characterized by abnormal development of embryologic ectoderm derivatives. The purposes of this study were to: 1) create baseline cephalometric norms for male children with ED; 2) assess craniofacial growth and development in hypohidrotic ED male children with severe hypodontia, compared with non-ED children with class I dental relationships; 3) compare the craniofacial morphology of titanium dental implant-treated ED males with non-implant-treated ED males; and 4) correlate the severity of hypodontia to craniofacial dysmorphology. Cephalometric radiographs of class I individuals and implant-treated and nontreated ED groups were used to evaluate craniofacial morphology. Traditional cephalometric landmarks and measurements were used to compare groups using the generalized estimate equation analysis. Age, gender, and the number of permanent maxillary teeth present had a significant (P =.01) explanatory relationship with the craniofacial measures when comparing untreated ED children to norms. Mean craniofacial differences between ED and non-ED children still existed when the explanatory effects of these variables were controlled, indicating dysmorphology in several craniofacial structures (e.g., cranial base, mandibular length). The number of missing maxillary permanent teeth was significantly related with craniofacial dysmorphology in the ED population. Craniofacial morphology did not differ significantly between implant-treated and nontreated ED children, suggesting that treatment with intraosseous dental implants, as applied in this population, did not rescue normal craniofacial growth and development.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"112 4","pages":"327-34"},"PeriodicalIF":0.0,"publicationDate":"2002-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ajmg.10654","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22063873","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 92

Clinical study and haplotype analysis in two brothers with Partington syndrome. 兄弟两例帕丁顿综合征的临床研究及单倍型分析。

American Journal of Medical Genetics Pub Date : 2002-11-01 DOI: 10.1002/ajmg.10630

Suzanna G M Frints, Martine Borghgraef, Guy Froyen, Peter Marynen, Jean-Pierre Fryns

{"title":"Clinical study and haplotype analysis in two brothers with Partington syndrome.","authors":"Suzanna G M Frints, Martine Borghgraef, Guy Froyen, Peter Marynen, Jean-Pierre Fryns","doi":"10.1002/ajmg.10630","DOIUrl":"https://doi.org/10.1002/ajmg.10630","url":null,"abstract":"Partington et al. [1988] described a three-generation family (MRXS1, MIM *309510, PRTS) with a syndromic form of X-linked mental retardation (XLMR). The clinical features in 10 affected males included mild to moderate MR, dystonic movements of the hands, and dysarthria. After refinement, the PRTS locus was mapped to marker DXS989 (with maximum LOD score of 3.1) with flanking markers DXS365 and DXS28. Since then, no other patients with a similar phenotype have been described. We present a detailed description of the neurological symptoms and the disease history of two brothers with the clinical features of PRTS. Psychomotor development was delayed in both, and neurological features included mild to moderate mental retardation, dysarthria, facial muscle weakness, severe dysdiadochokinesis, slow dystonic movements, and mild spasticity of the hands, without ataxia or spasticity of the legs. The symptoms were nonprogressive and extrapyramidal, and without cerebellar involvement. In general, behavior of the two brothers was friendly and quiet, although the elder brother had periods of depressed mood and outbursts of anger. Karyotypes and subsequent investigation of the subtelomeres as well as DNA analysis of the FMR1 gene, the androgen receptor gene, and the DM locus did not reveal a genetic abnormality. Haplotype analysis showed that the affected brothers share the PRTS region at Xp22.1. Mutation screening of the PDH-E1alpha gene did not reveal a pathogenic mutation.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"112 4","pages":"361-8"},"PeriodicalIF":0.0,"publicationDate":"2002-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ajmg.10630","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22063214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 13

Two cases of the caudal duplication anomaly including a discordant monozygotic twin. 尾侧复制异常2例，包括一个不一致的同卵双胞胎。

American Journal of Medical Genetics Pub Date : 2002-11-01 DOI: 10.1002/ajmg.10594

H Y Kroes, M Takahashi, R J Zijlstra, J A L L Baert, K A Kooi, R M W Hofstra, A J van Essen

{"title":"Two cases of the caudal duplication anomaly including a discordant monozygotic twin.","authors":"H Y Kroes, M Takahashi, R J Zijlstra, J A L L Baert, K A Kooi, R M W Hofstra, A J van Essen","doi":"10.1002/ajmg.10594","DOIUrl":"https://doi.org/10.1002/ajmg.10594","url":null,"abstract":"We present two unrelated patients with various duplications in the caudal region. One patient presented with a duplication of the distal spine from L4, left double ureter, duplication of the vagina and cervix, and duplication of the distal colon. The second patient was diagnosed with a duplication of the colon, bladder, vagina and uterus. The first patient had an unaffected monozygotic twin sister. Dominguez et al. [1993: Am J Dis Child 147:1048-1052] presented six similar cases, and introduced the name \"caudal duplication syndrome.\" The pathogenesis of the caudal duplication anomaly is unclear. The possibility of a polytopic primary developmental field defect or a disruptive sequence are discussed. On the other hand, somatic or germline mutations in certain developmental genes could be involved, as illustrated by the mouse mutations disorganisation and fused. DNA-analysis of the AXIN1 gene, the human homologue of the gene responsible for fused, performed in our first patient, did not show any apparent pathogenic mutation.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"112 4","pages":"390-3"},"PeriodicalIF":0.0,"publicationDate":"2002-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ajmg.10594","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22063218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 33

Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review. 淋巴水肿-淋巴管扩张-智力低下(Hennekam)综合征:综述。

American Journal of Medical Genetics Pub Date : 2002-11-01 DOI: 10.1002/ajmg.10707

Inge D C Van Balkom, Mariel Alders, Judith Allanson, Carlo Bellini, Ulrich Frank, Greetje De Jong, Ingeborg Kolbe, Didier Lacombe, Stan Rockson, Peter Rowe, Frits Wijburg, Raoul C M Hennekam

{"title":"Lymphedema-lymphangiectasia-mental retardation (Hennekam) syndrome: a review.","authors":"Inge D C Van Balkom, Mariel Alders, Judith Allanson, Carlo Bellini, Ulrich Frank, Greetje De Jong, Ingeborg Kolbe, Didier Lacombe, Stan Rockson, Peter Rowe, Frits Wijburg, Raoul C M Hennekam","doi":"10.1002/ajmg.10707","DOIUrl":"https://doi.org/10.1002/ajmg.10707","url":null,"abstract":"The Hennekam syndrome is an infrequently reported heritable entity characterized by lymphedema, lymphangiectasia, and developmental delay. Here we add an additional 8 patients, and compare their findings to the 16 cases from the literature. The lymphedema is usually congenital, can be markedly asymmetrical, and, often, gradually progressive. Complications such as erysipelas are common. The lymphangiectasias are present in the intestines, but have also been found in the pleura, pericardium, thyroid gland, and kidney. Several patients have demonstrated congenital cardiac and blood vessel anomalies, pointing to a disturbance of angiogenesis in at least some of the patients. Facial features are variable, and are chiefly characterized, in a typical patient, by a flat face, flat and broad nasal bridge, and hypertelorism. Facial features are thought to mirror the extent of intrauterine facial lymphedema, or may be caused by lymphatic obstruction that affects the early migration of neural crest tissue. Other anomalies have included glaucoma, dental anomalies, hearing loss, and renal anomalies. The psychomotor development varies widely, even within a single family, from almost normal development to severe mental retardation. Convulsions are common. The existence of 10 familial cases, equal sex ratio, increased parental consanguinity rate (4/20 families), and absence of vertical transmission are consistent with an autosomal recessive pattern of inheritance. It seems likely that most (but not all) manifestations of the entity can be explained as sequences of impaired prenatal and postnatal lymphatic flow, suggesting that the causative gene(s) should have a major function in lymphangiogenesis.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"112 4","pages":"412-21"},"PeriodicalIF":0.0,"publicationDate":"2002-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ajmg.10707","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22063147","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 92

Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. 晚期婴儿神经元样脂褐质病:CLN2突变患者临床病程的定量描述。

American Journal of Medical Genetics Pub Date : 2002-11-01 DOI: 10.1002/ajmg.10660

Robert Steinfeld, Peter Heim, Henning von Gregory, Kerstin Meyer, Kurt Ullrich, Hans H Goebel, Alfried Kohlschütter

{"title":"Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.","authors":"Robert Steinfeld, Peter Heim, Henning von Gregory, Kerstin Meyer, Kurt Ullrich, Hans H Goebel, Alfried Kohlschütter","doi":"10.1002/ajmg.10660","DOIUrl":"https://doi.org/10.1002/ajmg.10660","url":null,"abstract":"We examined 26 individuals with clinical and electron microscopic signs of late infantile neuronal ceroid lipofuscinosis (LINCL). In 22 cases, we found both pathogenic alleles. Sixteen patients exclusively carried either one or a combination of the two common mutations R208X and IVS5-1G > C. In the remaining cases, four missense mutations could be detected, of which R127Q, N286S, and T353P represent novel, previously not described alleles. A clinical performance score was developed by rating motor, visual, and verbal functions and the incidence of cerebral seizures in 3-month intervals during the course of the disease. A Total Disability Score was derived by summing up the single scores for motor, visual, and verbal functions. The 16 individuals with the two common mutations were grouped together (referred to as standard patients), and the 5th, 50th, and 95th centiles were calculated and graphically depicted over time. The scores for motor function and language ability dropped earliest and progressed very similarly in the standard patients. The performance curves of two children with the N286S mutation slightly diverged from the 95th centile. However, the performance curves of one patient with atypical LINCL carrying the R127Q mutation fell far beyond the 95th centile. The presented performance rating clearly and quantitatively delineates the disease course of the LINCL patients and hence offers a useful tool for clinical evaluation of future therapeutic interventions. In addition, the described performance score system can be applied to other types of neuronal ceroid lipofuscinoses and could be adapted to various other neurodegenerative diseases of childhood.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"112 4","pages":"347-54"},"PeriodicalIF":0.0,"publicationDate":"2002-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/ajmg.10660","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"22063212","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 149

Adjunct diagnostic test for Angelman syndrome: the tuning fork response. Angelman综合征的辅助诊断试验:音叉反应。

American Journal of Medical Genetics Pub Date : 2002-11-01 DOI: 10.1002/ajmg.10668

Bryan D Hall, Ronald G Cadle

引用次数: 2

Renal cancer: cytogenetic and molecular genetic aspects. 肾癌:细胞遗传学和分子遗传学方面。

American Journal of Medical Genetics Pub Date : 2002-10-30 DOI: 10.1002/ajmg.10697

Aurelia M Meloni-Ehrig

引用次数: 66