Indian journal of human genetics最新文献

{"title":"Berardinelli-Seip syndrome type 1 in an Egyptian child.","authors":"Kotb Abbass Metwalley,&nbsp;Hekma Saad Farghaly","doi":"10.4103/0971-6866.132762","DOIUrl":"https://doi.org/10.4103/0971-6866.132762","url":null,"abstract":"<p><p>Berardinelli-Seip syndrome type 1 or Berardinelli-Seip congenital lipodystrophy 1 (BSCL1) is a very rare genetic disorder characterized by lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. Its prevalence in Egypt is not known. Here, we report case of a 12-year-old Egyptian boy with the clinical, metabolic and molecular genetics manifestations of BSCL1 including overt diabetes mellitus. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 1","pages":"75-8"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.132762","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32451112","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Split-hand/feet malformation in three tamilian families and review of the reports from India.","authors":"S Deepak Amalnath,&nbsp;Maya Gopalakrishnan,&nbsp;Tarun Kumar Dutta","doi":"10.4103/0971-6866.132769","DOIUrl":"https://doi.org/10.4103/0971-6866.132769","url":null,"abstract":"<p><p>Split-hand/foot malformation (SHFM) is a rare condition which can be either syndromic or nonsyndromic. We report three unrelated pedigrees, one with autosomal dominant (AD) inheritance and the other two with autosomal recessive (AR) pattern. We also briefly review the published reports from India. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 1","pages":"92-5"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.132769","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32451090","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reactive metabolites and antioxidant gene polymorphisms in type 2 diabetes mellitus.","authors":"Monisha Banerjee,&nbsp;Pushpank Vats","doi":"10.4103/0971-6866.132747","DOIUrl":"https://doi.org/10.4103/0971-6866.132747","url":null,"abstract":"<p><p>Type 2 diabetes mellitus (T2DM), by definition is a heterogeneous, multifactorial, polygenic syndrome which results from insulin receptor (IR) dysfunction. It is an outcome of oxidative stress caused by interactions of reactive metabolites (RMs) with lipids, proteins and other molecules of the human body. Production of RMs mainly superoxides (•O2 (-)) has been found in a variety of predominating cellular enzyme systems including nicotinamide adenine dinucleotide phosphate oxidase, xanthine oxidase, cyclooxygenase, endothelial nitric oxide synthase (eNOS) and myeloperoxidase. The four main RM related molecular mechanisms are: increased polyol pathway flux; increased advanced glycation end-product formation; activation of protein kinase C isoforms and increased hexosamine pathway flux which have been implicated in glucose-mediated vascular damage. Superoxide dismutase, catalase, glutathione peroxidase, glutathione-S-transferase and NOS are antioxidant enzymes involved in scavenging RMs in normal individuals. Functional polymorphisms of these antioxidant enzymes have been reported to be involved in the pathogenesis of T2DM. The low levels of antioxidant enzymes or their non-functionality results in excessive RMs which initiates stress related pathways thereby leading to IR and T2DM. An attempt has been made to review the role of RMs and antioxidant enzymes in oxidative stress resulting in T2DM. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 1","pages":"10-9"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.132747","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32448595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unexpected Inheritance of a Balanced Homologous translocation t(22q;22q) from father to a phenotypically normal daughter.","authors":"D K Chopade,&nbsp;Harish Harde,&nbsp;Pallavi Ugale,&nbsp;Sandesh Chopade","doi":"10.4103/0971-6866.132765","DOIUrl":"https://doi.org/10.4103/0971-6866.132765","url":null,"abstract":"<p><p>Rearrangements between homologous chromosomes are extremely rare and manifest mainly as monosomic or trisomic offsprings. There are remarkably few reports of balanced homologous chromosomal translocation t (22q; 22q) and only two cases of transmission of this balanced homohologous rearrangement from mother to normal daughter are reported. Robersonian translocation carriers in non-homologous chromosomes have the ability to have an unaffected child. However, it is not possible to have an unaffected child in cases with Robersonian translocations in homologous chromosomes. Carriers of homologous chromosome 22 translocations with maternal uniparental disomy do not have any impact on their phenotype. We are presenting a family with a history of multiple first trimester miscarriages and an unexpected inheritance of balanced homologous translocation of chromosome 22 with paternal uniparental disomy. There are no data available regarding the impact of paternal UPD 22 on the phenotype. We claim this to be the first report explaining that paternal UPD 22 does not impact the phenotype. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 1","pages":"85-8"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.132765","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32451088","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association study of the ABCC8 gene variants with type 2 diabetes in south Indians.","authors":"Radha Venkatesan,&nbsp;Dhanasekaran Bodhini,&nbsp;Nagarajan Narayani,&nbsp;Viswanathan Mohan","doi":"10.4103/0971-6866.132752","DOIUrl":"https://doi.org/10.4103/0971-6866.132752","url":null,"abstract":"<p><strong>Background: </strong>The ABCC8 gene which encodes the sulfonylurea receptor plays a major role in insulin secretion and is a potential candidate for type 2 diabetes. The -3c → t (rs1799854) and Thr759Thr (C → T, rs1801261) single nucleotide polymorphisms (SNPs) of the ABCC8 gene have been associated with type 2 diabetes in many populations. The present study was designed to investigate the association of these two SNPs in an Asian Indian population from south India.</p><p><strong>Materials and methods: </strong>A total of 1,300 subjects, 663 normal glucose tolerant (NGT) and 637 type 2 diabetic subjects were randomly selected from the Chennai Urban Rural Epidemiology Study (CURES). The -3c → t and Thr759Thr were genotyped in these subjects using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and a few variants were confirmed by direct sequencing.</p><p><strong>Results: </strong>The frequency of the 't' allele of the -3c → t SNP was found to be 0.27 in NGT and 0.29 in type 2 diabetic subjects (P = 0.44). There was no significant difference in the genotypic frequency between the NGT and type 2 diabetic group (P = 0.18). Neither the genotypic frequency nor the allele frequency of the Thr759Thr polymorphism was found to differ significantly between the NGT and type 2 diabetic groups.</p><p><strong>Conclusion: </strong>The -3c → t and the Thr759Thr polymorphisms of the ABCC8 gene were not associated with type 2 diabetes in this study. However, an effect of these genetic variants on specific unidentified sub groups of type 2 diabetes cannot be excluded.</p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 1","pages":"37-42"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.132752","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32451105","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chronic myeloid leukemia in case of Klinefelter syndrome.","authors":"Vasundhara Chennuri,&nbsp;Rajesh Kashyap,&nbsp;Parag Tamhankar,&nbsp;Subha Phadke","doi":"10.4103/0971-6866.132760","DOIUrl":"https://doi.org/10.4103/0971-6866.132760","url":null,"abstract":"<p><p>Klinefelter syndrome (KS) is a sex chromosome disorder and has been reported to be associated with increased risk for malignancies. We report a 22-year-old male patient who was diagnosed to have chronic myeloid leukemia in chronic phase. Bone marrow cytogenetic examination revealed karyotype 47, XXY, t (9; 22)(q34, q11) suggestive of KS with presence of Philadelphia chromosome. The patient was treated with oral imatinib mesylate (400 mg/day). Complete hematological response was achieved after 2 months of therapy. The bcr-abl/abl transcript percentage measured from peripheral blood at baseline, 1 and 2 years after imatinib were 97%, 1.99%, 0.007%, respectively. He remains in complete hematological and major molecular remission after 2 years of continued imatinib therapy. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 1","pages":"69-71"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.132760","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32451110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Glucose 6-phosphate dehydrogenase deficiency in Muslim community settled in Jaunpur district.","authors":"Vandana Rai,&nbsp;Pradeep Kumar","doi":"10.4103/0971-6866.132770","DOIUrl":"https://doi.org/10.4103/0971-6866.132770","url":null,"abstract":"1. Brewer GJ, Tarlov AR, Alving AS. The methemoglobin reduction test for primaquine‐type sensitivity of erythrocytes. A simplified procedure for detecting a specific hypersusceptibility to drug hemolysis. JAMA 1962;180:386‐8. 2. Akhter N, Begum N, Ferdous i S, Khan WA. Glucose‐6‐Phosphate Dehydrogenase (G6PD) status in neonatal jaundice and its relationship with severity of hyperbilirubinemia. J Bangladesh Soc Physiol 2009;4:71‐6. 3. Ali N, Anwar M, Ayyub M, Bhatti FA, Nadeem M, Nadeem A. Frequency of glucose‐6‐phosphate dehydrogenase Sir, Glucose 6‐phosphate dehydrogenase (G6PD) deficiency is the commonest X-linked genetic defect, affecting 400 million people worldwide and predisposes affected individuals to neonatal jaundice, drug or infection‐mediated hemolytic crisis, and favism. G6PD locus is known to be one of the most polymorphic loci among humans with almost 300 allelic variants reported so far. India is an amalgamation of several religion, castes, ethnic, and linguistic groups. People of different groups living side by side for past thousands of years and retain their unique and separate gene pool by practicing endogamy. Hindu and Muslim are the two major religious groups of Indian populations. There is no information about G6PD deficiency from Muslim population of Uttar Pradesh. We studied G6PD deficiency in Muslims settled in Jaunpur district of eastern Uttar Pradesh. Screening for G6PD deficiency was performed by employing methemoglobin reduction test according to the method of Brewer et al.,[1] 5 ml blood sample from 200 individuals belonging to Muslim religion were collected in acid citrate dextrose (ACD) coated vials. All subjects selected for the study were domicile of UP, and were of age group of 18‐40 years. The genotype frequency of deficient (Gd−/Gd−), carrier (Gd+/Gd−), and normal (Gd+/Gd+) were 0.13, 0.035, and 0.835, respectively. In Muslim samples analyzed, frequency of P (Gd+) allele was 0.824 and q (Gd−) allele was 0.176 [Table 1]. In present study the G6PD deficiency frequency was found to be 13% which is well comparable with the frequency reported from Muslim populations of other neighboring Asian countries like ‐ 3.3‐20% in Bangladesh,[2] 1.07‐3.17% in Pakistan,[3] 3.3‐ 17% in Malaysia,[4] 2.3% in Vietnam,[5] 5.7‐6.6% in Philippines,[6] and 2.7‐17.5% in Indonesia.[7] Several Glucose 6-phosphate dehydrogenase deficiency in Muslim community settled in Jaunpur district Letters to the Editor","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 1","pages":"96-7"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.132770","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32451091","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of single nucleotide polymorphisms of CACNA1A gene in migraine.","authors":"Aadil Bashir,&nbsp;Shiekh Saleem,&nbsp;Maqbool Wani,&nbsp;Roohi Rasool,&nbsp;Irfan Yousuf Wani,&nbsp;Azhara Gulnar,&nbsp;Sawan Verma","doi":"10.4103/0971-6866.132757","DOIUrl":"https://doi.org/10.4103/0971-6866.132757","url":null,"abstract":"<p><strong>Introduction: </strong>Migraine is a chronic, neurovascular polygenic disease where genetic and environmental factors are involved in its etiology. Dysfunction of neuronal ion transportation can provide a model for predisposition for common forms of migraine. Mutations in genes encoding ion channels disturb the rhythmic function of exposed tissue that may also explain the episodic nature of migraine. Our aim was to study the single nucleotide polymorphisms of CACNA1A gene in migraine patients.</p><p><strong>Materials and methods: </strong>The subjects were the patients of migraine, in the age range of 18-80 years, diagnosed by a Neurologist, as per the diagnostic criteria of International Headache Society (IHS) Classification 2004 after excluding other causes of headache by clinical examination and relevant investigations. The controls were the age and sex matched healthy persons from the same population excluding the relatives of patients. Only those patients and the controls, who voluntarily participated in the study, were taken and their blood samples were taken for the study. Deoxyribonucleic acid (DNA) extraction was performed according to the manufacturer's protocol for Qiagen DNA extraction kits (Qiagen, Hilden, NRW, Germany). DNA content was quantified by spectrophotometric absorption (Nanodrop Spectrophotometer, BioLab, Scoresby, VIC, Australia). Polymerase chain reaction was performed using an iCycler Thermal Cycler (Bio.Rad, Hercules, CA, USA). The polymorphic analysis of CACNA1A gene was carried out by two methods: Restriction fragment length polymorphism and sequencing.</p><p><strong>Results: </strong>The study included a total of 25 patients of migraine, diagnosed on out-patient department basis as per IHS Classification 2004 and compared with age and sex matched 25 healthy controls. Most of the patients 23 (92%) were below the age of 50 years. 20 of the patients (80%) were females and 5 (20%) were males. The polymorphic analysis of CACNA1A gene revealed the presence of only the wild form of the gene for the codon E993V in both case and control groups.</p><p><strong>Conclusion: </strong>In our study, we could not find any polymorphism of CACNA1A gene in the selected patients. Instead the wild type of genotype was found in both patients and controls. This negative result presented here, implies that if the CACNA1A gene is involved in typical migraine (with and without aura), its contribution is very modest and therefore difficult to discern. Nevertheless, there are other genes that could be considered potential candidates for typical migraine susceptibility for which further research is needed.</p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 1","pages":"59-63"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.132757","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32451108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characterization of a rare short arm heteromorphism of chromosome 22 in a girl with down-syndrome like facies.","authors":"Abdelhafid Natiq,&nbsp;Siham Chafai Elalaoui,&nbsp;Thomas Liehr,&nbsp;Saïd Amzazi,&nbsp;Abdelaziz Sefiani","doi":"10.4103/0971-6866.132767","DOIUrl":"https://doi.org/10.4103/0971-6866.132767","url":null,"abstract":"<p><p>Chromosomal heteromorphisms are described as interindividual variation of chromosomes without phenotypic consequence. Chromosomal polymorphisms detected include most regions of heterochromatin of chromosomes 1, 9, 16 and Y and the short arms of all acrocentric chromosomes. Here, we report a girl with Down-syndrome such as facies and tremendously enlarged short arm of a chromosome 22. Fluorescence in situ hybridization (FISH) with a probe specific for all acrocentric short arms revealed that the enlargement p arms of the chromosome 22 in question contained exclusively heterochromatic material derived from an acrocentric short arm. Parental studies identified a maternal origin of this heteromorphism. Cryptic trisomy 21 of the Down-syndrome critical region was excluded by a corresponding FISH-probe. Here, we report, to the best of our knowledge, largest ever seen chromosome 22 short arm, being ~×1.5 larger than the normal long arm. </p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 1","pages":"89-91"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.132767","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32451089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phenotype-genotype updates from familial Mediterranean fever database registry of Mansoura University Children' Hospital, Mansoura, Egypt.","authors":"Mohammad S Al-Haggar,&nbsp;Sohier Yahia,&nbsp;Dina Abdel-Hady,&nbsp;Afaf Al-Saied,&nbsp;Rasha Al-Kenawy,&nbsp;Rabab Abo-El-Kasem","doi":"10.4103/0971-6866.132755","DOIUrl":"https://doi.org/10.4103/0971-6866.132755","url":null,"abstract":"<p><strong>Background: </strong>Familial Mediterranean fever (FMF) is autosomal recessive disease that affects people from Mediterranean region, Europe and Japan. Its gene (Mediterranean fever [MEFV]) has more than 100 mostly non-sense mutations.</p><p><strong>Objectives: </strong>The objective of the following study is to provide some phenotype-genotype correlates in FMF by categorizing the Egyptian FMF cases from Delta governorates after analysis of the four most common mutations of MEFV gene (M680I, M694I, M694V, V726A).</p><p><strong>Subjects and methods: </strong>Clinically, suspected FMF cases using Tel-Hashomer criteria were enrolled in the study. Cases were referred to Mansoura University Children's Hospital that serves most of the most middle Delta governorates, in the period from 2006 to 2011. Subjects included 282 males and 144 females, mean age of onset 9.3 ± 2.2 years. All cases were analyzed for these mutations using amplification refractory mutation system based on the polymerase chain reaction technique. Five FMF patients agreed to undergo renal biopsy to check for development of amyloidosis. Analysis of data was carried out using SPSS (SPSS, Inc., Chicago, IL, USA).</p><p><strong>Results: </strong>Mutation was found in 521 out of 852 studies alleles, the most frequent is M694V (35.4%) followed by M694I, V726A and M680I. 11 cases were homozygous; 7 M694V, 3 M680I and only one M694I case. Severe abdominal pain occurred in 31 (7.28%) but severe arthritis in 103 cases (24.2%). Strong association was found between arthritis and homozygous mutant compared with single and double heterozygous (72.7% vs. 33.3% and 20.24%, P < 0.001). Four amyloid cases were M694V positive.</p><p><strong>Conclusion: </strong>M694V allele is the most common among Egyptian FMF especially those with amyloidosis. We recommend routine check for amyloidosis in FMF cases to statistically validate this link.</p>","PeriodicalId":88516,"journal":{"name":"Indian journal of human genetics","volume":"20 1","pages":"43-50"},"PeriodicalIF":0.0,"publicationDate":"2014-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.4103/0971-6866.132755","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32451106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}