An incidental case of dihydropyrimidine dehydrogenase deficiency: One case, multiple challenges
We describe a 3-month-old baby who was incidentally found by urine organic acid testing (done as part of positive newborn screen) to have very high level of thymine and uracil, consistent with DPD deficiency. Since the prevalence of asymptomatic DPD deficiency in the general population is fairly significant (1 in 10,000), we emphasize in this case study the importance of developing a guideline in genetic counseling and patient education for this condition as well as other incidental laboratory findings. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Hamoud H Al KhallafMiao HeAngela WittenauerElizabeth E WoolleyMariagrazia CuntoMuhammad Ali Pervaiz Source Type: research
Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases
We report two rare cases of double heterozygous HbQ India/HbD Punjab where the hybrid Hb was seen to elute at retention time similar to HbC on CE HPLC. The first case had unconjugated hyperbilirubinemia at presentation; while, the second case was asymptomatic. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Deepti MutrejaSeema TyagiNarender TejwaniJasmita Dass Source Type: research
Molecular characterization in a case of isolated growth hormone deficiency and further prenatal diagnosis of an unborn sibling
We report a proband, with isolated GHD (IGHD) with very early growth arrest and undetectable levels of GH. Homozygous complete deletion of the GH1 gene was identified by real-time/quantitative polymerase chain reaction (RT/q-PCR) and confirmed by an independent molecular genetic method; the multiplex ligation-dependent probe amplification (MLPA) technique. Prenatal diagnosis was offered for the subsequent pregnancy in the mother of our proband. Identical heterozygous deletion of the GH1 gene was detected in both parents. The fetus had a similar homozygous deletion of the GH1 gene. We thus report a unique case with a confir...
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Ruchi NadarKavita KhatodNikhil PhadkeChaitanya DatarSujata VaidyaAnuradha KhadilkarVaman Khadilkar Source Type: research
Aromatase excess syndrome presenting with prepubertal gynecomastia in an Egyptian child with type 1 neurofibromatosis
Kotb Abbass Metwalley, Hekma Saad FarghalyIndian Journal of Human Genetics 2013 19(4):472-474A romatase excess syndrome (AEXS) is a rare autosomal dominant disorder characterized by prepubertal gynecomastia, it responds well to medical treatment. In the absence of prompt suspicion, it can expose the patient to the risk of unnecessary surgical intervention. Up to our best knowledge, the association between AEXS and neurofibromatosis type 1 (NF1) was not reported before. Here, we describe a AEXS presenting with prepubertal gynecomastia in an Egyptian child with NF1 that improved with aromatase inhibitors. (Source: Indian Jou...
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Kotb Abbass MetwalleyHekma Saad Farghaly Source Type: research
A rare anomaly of the foot presented as polydactyly
We describe a case in a 4-year-old child diagnosed as triphalangism foot with no other obvious visible anomaly. Osteoplasty-combined surgery, which was ideal for anatomical reconstruction. In a 16-month follow-up period child recovered very well. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Vikram Jeet Singh DhingraAshish KumarAmit MittalSamita GuptaRikki SingalBir SinghChetan Dua Source Type: research
Analysis of association of TaqI VDR gene polymorphism with the chronic periodontitis in Dravidian ethnicity
Conclusion: Our study concludes that TaqI VDR gene polymorphism is associated with CP in Dravidian ethnicity. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Gurumoorthy KaarthikeyanND JayakumarO PadmalathaSheeja VargheseB Anand Source Type: research
Msx1 Gene Variant - its Association in Isolated Hypodontia: A Case Control Genetic study!!!
Conclusion: MSX1 671 T > C gene variant may be a good screening marker for non-syndromic tooth agenesis in Raichur patients. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Naveen Admala ReddyGopinath AdusumilliRaghu DevannaRohra G MayurSaravanan PichaiSharmila Arujnan Source Type: research
The proportion of tetrahydrobiopterin deficiency and PAH gene deficiency variants among cases with hyperphenyalaninemia in Western Iran
Conclusion: Based on the performed study, we think that the frequency of milder forms of PKU is higher than those was estimated before and/or our findings here. Furthermore, the frequency of DHPR deficiency seems to be relatively high in our province. Since the clinical symptoms of DHPR deficiency are confusingly similar to that of classic PKU and its prognosis are much worse than classical PKU and cannot be solely treated with the PKU regime, our pilot study support that it is crucial to set up screening for BH4 deficiency, along with PAH deficiency, among all HPA patients diagnosed with HPA. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Keyvan MoradiReza AlibakhshiShohreh Khatami Source Type: research
Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population
Conclusion: Our study proposed that FGFR1, FGFR2 mutation, which confers predisposition to craniosynostosis does not exist in Indian population when compared to the western world. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Rajeev Kumar PandeyMinu BajpaiAbid AliSukanya GayanAmit Singh Source Type: research
Genomic characterization of some Iranian children with idiopathic mental retardation using array comparative genomic hybridization
Conclusion: The array CGH technique increased the detection rate of genomic imbalances in our patients by 12.5%. It is an accurate and reliable method for the determination of genomic imbalances in patients with IMR and dysmorphism. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Farkhondeh BehjatiSaghar Ghasemi FirouzabadiRoxana KariminejadRoshanak VameghiFirouzeh SajediYousef ShafaghatiBehruz Ebrahimizade GhasemlouAzadeh ShojaeiPeyman JamaliIdeh BahmanHossein Najmabadi Source Type: research
Mutation analysis of mitogen activated protein kinase 1 gene in Indian cases of 46,XY disorder of sex development
Discussions: Sequence analysis of MAP3K1 gene has revealed four variants including one missense, two silent and one deletion mutation. The missense mutation p.D806N was observed in four patients with hypospadias. Two patients showed the presence of silent mutation p.Q1028Q present in exon 14. Another silent mutation p.T428T was observed in a patient with gonadal dysgenesis. We have also observed one deletion mutation p. 942insT present in two patients. The pathogenicity of the missense mutation p.D806N was carried out using in-silico approach. Sequence homology analysis has revealed that the aspartate at 806 was found to b...
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Dhanjit Kumar DasSubodh G RahateBhakti P MehtaHarshavardhan M GawdeParag M Tamhankar Source Type: research
Promoter variants in interleukin-6 and tumor necrosis factor alpha and risk of coronary artery disease in a population from Western India
Conclusions: In summary, no association of the permissive promoter variants in the IL-6 gene and the TNFα gene were seen with an increased CAD risk. These and other studies highlight the importance of doing population specific studies. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Aparna A BhanushaliBR Das Source Type: research
Distribution and genotype frequency of the C1431T and pro12ala polymorphisms of the peroxisome proliferator activator receptor gamma gene in an Iranian population
Conclusions: Iran is a country with an ethnically diverse population and a comparison of allelic and genotypic frequencies of PPARγ C1431T and Pro12Ala polymorphisms between our population and others showed significant differences. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Hassan RookiMonir-Sadat HaerianPedram AzimzadehMahmoud EbrahimiReza MirhafezGordon FernsMajid Ghayour-MobarhanMohammad-Reza Zali Source Type: research
Chromosomal abnormalities in couples with repeated fetal loss: An Indian retrospective study
Conclusions: Chromosomal analysis is an important etiological investigation in couples with repeated miscarriages. Characterization of variants/marker chromosome enable calculation of a more precise recurrent risk in a subsequent pregnancy thereby facilitating genetic counseling and deciding further reproductive options. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Frenny J ShethThomas LiehrPritti KumariRalph AkindeHarsh J ShethJayesh J Sheth Source Type: research
Prevalence of methylenetetrahydrofolate reductase 677 C-T polymorphism among mothers of Down syndrome children
Conclusion: No association has been observed between 677 C-T polymorphism and risk of non-disjunction in case mothers. Detection of polymorphisms in more genes of folate pathway is required to find out the exact cause of non-disjunction. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - January 4, 2014 Category: Genetics & Stem Cells Authors: Anupam KaurAmandeep Kaur Source Type: research
