Annales de Génétique最新文献_第7页

A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin 印度单孢菌科KRTHB6和KRTHB1基因HTM区表型与基因型状态的相关性研究

Annales de Génétique Pub Date : 2004-01-01 DOI: 10.1016/j.anngen.2003.07.003

Sujay Khandpur , N.K. Bairwa , B.S.N. Reddy , R. Bamezai

{"title":"A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin","authors":"Sujay Khandpur , N.K. Bairwa , B.S.N. Reddy , R. Bamezai","doi":"10.1016/j.anngen.2003.07.003","DOIUrl":"10.1016/j.anngen.2003.07.003","url":null,"abstract":"<div><p>We investigated 21 affected individuals in two unrelated monilethrix families of Indian origin and identified point mutation (g.4624G>A) in the HTM motif (exon-7) of the KRTHB6 gene in all the affected members leading to E413K change in this basic keratin. The HTM motif of KRTHB1, however, showed previously unreported two allelic variants, one with three novel variations (SNPs) in <em>cis</em>: g.4421insT (intronic); g.4461T>C (exonic); g.4485A>G (exonic) and second with only intronic variation (SNP) (g.4421insT). Interestingly, the two distinct phenotypes of: localized severe hair defect with beaded appearance confined to the scalp of all the affected members of Family 1 and of generalized unbeaded hair defect of moderate severity in Family 2, segregated in the two families, respectively, correlating with the two separate genotypes for the functionally critical HTM region of KRTHB1 gene in the background of E413K mutation in the KRTHB6 gene. Presence of E413K mutation in the HTM of KRTHB6 gene was not observed in the background of the allelic variant with three SNPs in KRTHB1 gene in homozygous condition in all the affected members of Family 1, affected with a localized but severe form of the disease. However, the same (E413K) mutation existed in the KRTHB6 gene in the background of the allelic variant with three SNPs in the KRTHB1 gene in homozygous condition, consistently in all the affected members of Family 2, where all its affected members showed the segregation of a milder form of the disease. Presence of both E413K mutation in the KRTHB6 and the variations in the KRTHB1 genes were not observed together in randomly selected 150 unaffected controls outside the two affected families. This is also the first report of HTM mutation of KRTHB6 gene in monilethrix cases of Indian origin and the first report of SNPs in the KRTHB1 gene in literature to our knowledge.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"47 1","pages":"Pages 77-84"},"PeriodicalIF":0.0,"publicationDate":"2004-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.anngen.2003.07.003","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24440760","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: 4

Double trisomy (48,XXY,+21) in monozygotic twins: case report and review of the literature 单卵双胞胎双三体(48,XXY，+21):病例报告及文献复习

Annales de Génétique Pub Date : 2004-01-01 DOI: 10.1016/j.anngen.2003.08.025

Dimitrios Iliopoulos , George Poultsides , Vasiliki Peristeri , Georgia Kouri , Alexandros Andreou , Nikolaos Voyiatzis

引用次数: 30

Gerstmann–Sträussler–Scheinker disease with P102L–V129 mutation: a case with psychiatric manifestations at onset Gerstmann-Sträussler-Scheinker P102L-V129突变疾病:发病时有精神症状1例

Annales de Génétique Pub Date : 2003-10-01 DOI: 10.1016/S0003-3995(03)00017-0

Marco Bianca , Sebastiano Bianca , Ignazio Vecchio , Rocco Raffaele , Carmela Ingegnosi , Francesco Nicoletti

{"title":"Gerstmann–Sträussler–Scheinker disease with P102L–V129 mutation: a case with psychiatric manifestations at onset","authors":"Marco Bianca , Sebastiano Bianca , Ignazio Vecchio , Rocco Raffaele , Carmela Ingegnosi , Francesco Nicoletti","doi":"10.1016/S0003-3995(03)00017-0","DOIUrl":"10.1016/S0003-3995(03)00017-0","url":null,"abstract":"<div><p>Gerstmann–Sträussler–Scheinker disease (GSS) is an adult onset, rare, genetically determined autosomal dominant prion disease. Clinically, it is characterized predominantly by slowly progressive spino-cerebellar dysfunction with ataxia, absent reflexes in the legs and cognitive impairment. Onset is usually in the fifth decade and in the early phase, ataxia is predominant. Mutations in the prion protein gene (PRNP) had been identified and the most important of these is at codon 129. A genotype–phenotype relationship with genetic polymorphism at residue 129 between methionine and valine has been supposed. We describe a patient with GSS and P102L–V129 mutation in which the onset with prominent psychiatric features characterized by apathy and depression and not with cerebellar sign and the clinical course with seizures, nor observed in P102L–V129 cases, allow us to confirm observations that the GSS caused by the 102 mutation is influenced by the codon 129 polymorphism with a specific genotype–phenotype influence, but probably other additional factors might be considered as background for phenotypic variability.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"46 4","pages":"Pages 467-469"},"PeriodicalIF":0.0,"publicationDate":"2003-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00017-0","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24111484","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: 35

Familial interstitial deletion of chromosome 4 (p15.2p16.1) 家族性4号染色体间质缺失(p15.2p16.1)

Annales de Génétique Pub Date : 2003-10-01 DOI: 10.1016/S0003-3995(03)00029-7

Vijay S. Tonk , Syed M. Jalal , Jose Gonzalez , Amantia Kennedy , Gopalrao V.N. Velagaleti

引用次数: 15

FISH and PCR analyses in three patients with 45,X/46,X,idic(Y) karyotype: clinical and pathologic spectrum 45、X/46、X、idic(Y)核型3例的FISH和PCR分析:临床和病理谱

Annales de Génétique Pub Date : 2003-10-01 DOI: 10.1016/S0003-3995(03)00016-9

Francisco Álvarez-Nava, Marisol Soto, María C Martínez, Minolfa Prieto, Zunilde Álvarez

{"title":"FISH and PCR analyses in three patients with 45,X/46,X,idic(Y) karyotype: clinical and pathologic spectrum","authors":"Francisco Álvarez-Nava, Marisol Soto, María C Martínez, Minolfa Prieto, Zunilde Álvarez","doi":"10.1016/S0003-3995(03)00016-9","DOIUrl":"10.1016/S0003-3995(03)00016-9","url":null,"abstract":"<div><p><strong><em>Objective. –</em></strong> To delineate the phenotypic spectrum (clinical and gonadal features) from patients with a 45,X/46,X,mar(Y) karyotype based upon of their clinical, histological, cytogenetic and molecular evaluation.</p><p><strong><em>Subjects. –</em></strong> Three patients with a 45,X/46,X,mar(Y) karyotype.</p><p><strong><em>Methods. –</em></strong> Clinical assessment, karyotyping, endocrine evaluation, FISH and PCR analyses of several Y-chromosome loci and direct sequencing of the SRY gene.</p><p><strong><em>Results. –</em></strong> The patients, two males and one female had varying degrees of impairment of sexual differentiation, with or without testis formation. One patient (reared as female and aged 17 years) had Turner syndrome with bilateral streak gonads. The second patient (2.4 years old) had ambiguous genitalia and presented a dysgenetic testis with a contralateral streak gonad. A third patient (26 years old) had bilateral dysgenetic testes (dysgenetic male pseudohermaphroditism). The ratio of 45,X vs. 46,X,+mar(Y) cells differed between patients and between different tissues. In each case the marker sexual chromosome was identified as a rearranged Y-chromosome (idic(Y)) using FISH and PCR analyses. In all cases the SRY gene was present in all tissues studied. No mutations were identified in this gene in any of the patients.</p><p><strong><em>Conclusions. –</em></strong> The extent of male or female differentiation in these patients depends in part on the prevalence, time occurrence, and distribution of the 45,X cell line.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"46 4","pages":"Pages 443-448"},"PeriodicalIF":0.0,"publicationDate":"2003-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00016-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24112048","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: 31

Limb reduction defects in the first generation and deafness in the second generation of intrauterine exposed fetuses to diethylstilbestrol 子宫内暴露于己烯雌酚的胎儿第一代出现肢体缺损，第二代出现耳聋

Annales de Génétique Pub Date : 2003-10-01 DOI: 10.1016/S0003-3995(03)00031-5

C. Stoll, Y. Alembik, B. Dott

{"title":"Limb reduction defects in the first generation and deafness in the second generation of intrauterine exposed fetuses to diethylstilbestrol","authors":"C. Stoll, Y. Alembik, B. Dott","doi":"10.1016/S0003-3995(03)00031-5","DOIUrl":"10.1016/S0003-3995(03)00031-5","url":null,"abstract":"<div><p>Maternal treatment with diethylstilbestrol (DES) during pregnancy can produce vaginal adenocarcinoma and other abnormalities of the vagina in her daughters when they reach adolescence or adulthood, miscarriages and absence of full term infants. Concerning malformations in newborns whose mothers were treated with DES, clitoromegaly and malformations of the uterus were reported in females and genital lesions in males. However, the frequencies of major congenital anomalies were not greater than expected. We report three cases of limb reduction defects (LRD) in the first generation of children whose mothers were treated with DES during pregnancy, and two children (one male, one female) with deafness in the second generation after intrauterine exposure to DES. The LRD were not associated with other congenital anomalies. The malformed children with LRD were born between 1965 and 1973. The deafness was also isolated. The two mothers who have no hearing problems and who are healthy were exposed in utero to DES in 1963 and 1965, respectively. Their children were born in 1989 and 1994, respectively. In conclusion, the association of LRD and hearing loss with intrauterine exposure to DES could be coincidental. However, some hypothesis may explain these associations. Congenital hearing loss in the second generation may suggest a transgenerational effect.</p></div>","PeriodicalId":100089,"journal":{"name":"Annales de Génétique","volume":"46 4","pages":"Pages 459-465"},"PeriodicalIF":0.0,"publicationDate":"2003-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/S0003-3995(03)00031-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"24112052","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: 18

Two 48,XXYY patients: clinical, cytogenetic and molecular aspects 2例48,xxyy患者:临床，细胞遗传学和分子方面

Annales de Génétique Pub Date : 2003-10-01 DOI: 10.1016/S0003-3995(03)00030-3

L Zelante , M.R Piemontese , G Francioli , S Calvano

引用次数: 14

“Cri-du-chat” syndrome in a patient born to a mother with a paracentric inversion of chromosome 5q “Cri-du-chat”综合征患者的母亲与旁中心反转染色体5q

Annales de Génétique Pub Date : 2003-10-01 DOI: 10.1016/j.anngen.2003.07.001

Sylvie Bourthoumieu , Françoise Esclaire , Faraj Terro , Marie Claire Baclet , Antoine Bedu , Brigitte Dufetelle , Brigitte Gilbert , Dominique Barthe , Catherine Yardin

引用次数: 0

Paternal reciprocal translocation t(11;16)(p13;q24.3) in a Silver–Russel syndrome patient 1例Silver-Russel综合征患者父系反向易位t(11;16)(p13;q24.3)

Annales de Génétique Pub Date : 2003-10-01 DOI: 10.1016/S0003-3995(03)00028-5

Vundinti Babu Rao, Kerketta Lily, Korgaonkar Seema, Kanjaksha Ghosh, Mohanty Dipika

引用次数: 4

The history of cytogenetics Portraits of some pioneers♢ 细胞遗传学的历史一些先驱的肖像

Annales de Génétique Pub Date : 2003-10-01 DOI: 10.1016/S0003-3995(03)00012-1

S Gilgenkrantz , E.M Rivera

引用次数: 14