Association of maternal folate with methylene tetrahydrofolate reductase polymorphism relationship in infants
Pankaj Kumar Mohanty, Seema KapoorIndian Journal of Human Genetics 2014 20(2):209-210 (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: Pankaj Kumar MohantySeema Kapoor Source Type: research
Congenital anonychia and brachydactyly of the left foot - Cooks syndrome variant: Case report and review of literature
Daipayan ChatterjeeIndian Journal of Human Genetics 2014 20(2):206-208Cooks syndrome is characterized by familial congenital anonychia or onychodystrophy, hypoplasia or absence of distal phalanges of the hands and feet with brachydactyly of the fifth finger and digitalization of the thumb (triphalangism). It is listed as a "rare disease" by the Office of Rare Diseases of the National Institutes of Health. Here, we report a case of congenital anonychia and brachydactyly of the left foot, which possibly is a variant of Cooks syndrome with a positive family history of similar deformity. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: Daipayan Chatterjee Source Type: research
Phenotypical characterization of 13q deletion syndrome: Report of two cases
We present two cases with 13q syndrome with two different deleted region and different severity on clinical features: One case with interstitial deletion belongs to the Group 1 with mild mental retardation and minor malformations and the other case with terminal deletion belongs to Group 3 with moderate to severe mental retardation and major malformations. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: Eiman BagherizadehYousef ShafaghatiFatemeh HadipourFarkhondeh Behjati Source Type: research
First report of c. 1499G>C mutation in a 6-month-child with cystic fibrosis
Abbas Sahami, Nourkhoda Sadeghifard, Alireza Monsef, Hadi PeymanIndian Journal of Human Genetics 2014 20(2):199-202So far, more than 1800 mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. In this case report, we presented first report of c. 1499G>C mutation in a 6-month-old girl with cystic fibrosis (CF) diagnosis. A 6-month-old girl with weakness and meconium Ileus referred to the pediatric clinic in Ilam, in the west of Iran. Patient's skin was dark and suffered from bronchiectasis. The sweat test was performed, and the concentration of chloride and sodium in patient&#...
Source: Indian Journal of Human Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: Abbas SahamiNourkhoda SadeghifardAlireza MonsefHadi Peyman Source Type: research
Omphalocele, exstrophy of cloaca, imperforate anus and spinal defect (OEIS Complex) with overlapping features of body stalk anomaly (limb body wall complex)
We report here autopsy findings in a case of OEIS complex, which apart from the major anomalies of the complex had bilateral club foot that is, congenital talipes equinovarus, right hydroureter, and body stalk anomaly. The umbilical cord was absent, and the umbilical vessels were embedded in an amniotic sheet, which connected the skin margin of the anterior body wall defect to the placenta, this feature being the hallmark of limb body wall complex (LBWC). This case further supports the view that OEIS and LBWC represent a continuous spectrum of abnormalities rather than separate conditions and may share a common etiology an...
Source: Indian Journal of Human Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: Suresh R. S. MandrekarSangeeta AmoncarSiddhartha BanaulikarVishal SawantR. G. W. Pinto Source Type: research
Constitutional mismatch repair deficiency syndrome: Do we know it?
C Ramachandra, Vasu Reddy Challa, Rachan ShettyIndian Journal of Human Genetics 2014 20(2):192-194Constitutional mismatch repair deficiency syndrome is a rare autosomal recessive syndrome caused by homozygous mutations in mismatch repair genes. This is characterized by the childhood onset of brain tumors, colorectal cancers, cutaneous manifestations of neurofibromatosis-1 like café au lait spots, hematological malignancies, and occasionally other rare malignancies. Here, we would like to present a family in which the sibling had glioblastoma, and the present case had acute lymphoblastic lymphoma and colorectal ...
Source: Indian Journal of Human Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: C RamachandraVasu Reddy ChallaRachan Shetty Source Type: research
Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation
We report a case of Wildervanck syndrome exhibiting Klippel-Feil anomaly, Duane's retraction syndrome and congenital deafness. Since the first case was reported in 1952, there have been more reports describing this triad either complete or incomplete. Our case has a complete triad of the syndrome along with frontal sinus hypoplasia. Our case is unique as the triad was associated with frontal sinus hypoplasia, which is very rare association. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: Suwansh Sukhadeorao MeshramSheetal NikoseShraddha JainAmar Taksande Source Type: research
Fetal valproate syndrome
In this report, we describe a case with typical features of fetal valproate syndrome (FVS). A 26-year-old female with epilepsy controlled on sodium valproate 800 mg/day since 3 years, gave birth to a male child with characteristic features of FVS. She also had 3 spontaneous first-trimester abortions during those 3 years. Sodium valproate, a widely used anticonvulsant and mood regulator, is a well-recognized teratogen that can result in facial dysmorphism, craniosynostosis, neural tube defects, and neurodevelopmental retardation. Therefore, we strongly recommend avoidance of valproic acid and supplementation of folic acid d...
Source: Indian Journal of Human Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: Parmarth G ChandaneIra Shah Source Type: research
Ectopia cilia with pedigree analysis: Second case report in the world
We present a case of ectopia cilia in a 28-year-old male patient. Ectopia cilia was were seen in the outer third of left upper eyelid. The patient's maternal grandfather also had ectopia cilia of the left upper eyelid as reported by the patient's mother. Ectopia cilia is a rare condition seen in humans. Only 12 cases of ectopic cilia in humans have been reported so far in the world. The present case of ectopia cilia is the second case report in the world with pedigree analysis. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: Tarang GoyalAnupam VarshneySK Bakshi Source Type: research
Prevalence of genetic variants associated with cardiovascular disease risk and drug response in the Southern Indian population of Kerala
Conclusions: We have identified that certain variants associated with cardiovascular disease and related drug response in the five genes, especially those in VKORC1, CYP2C19 and MYBPC3, are highly prevalent in the Kerala population, with almost 2 times higher prevalence of CYP2C19*2 variant compared with other regions in the country. Since the variants chosen in this study have relevance in disease phenotype and/or drug response, and are detected at a higher frequency, this study is likely to encourage clinicians to perform genetic testing before prescribing therapy. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: Lakshmi MahadevanAncy YesudasPK SajeshS RevuPrasanna KumarDevi SanthoshSam SanthoshJM SashikumarVK GopalakrishnanJoji BobenChanganamkandath Rajesh Source Type: research
Insertion-deletions burden in copy number polymorphisms of the Tibetan population
Conclusion: Study of inDels in CNV regions contribute to the enhanced understanding of the role played by the two variations and their collective influence on the genome. Further, a collection of these inDel genetic markers will aid in genetic mapping, further understanding of the phenotypic variability, identification of disease genes and in detecting novel CNVs. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: Avinash M VeerappaSangeetha VishweswaraiahKusuma LingaiahN Megha MurthyRaviraj V SureshKeshava BelurNallur B RamachandraTejaswiniNiveditha B PatelPK Supriya Gowda Source Type: research
FLT3 and NPM-1 mutations in a cohort of acute promyelocytic leukemia patients from India
This study evaluated the presence of Famus like tyrosine kinase-3 (FLT3) and nucleophosmin-1 (NPM1) gene mutations in a cohort of 40 APL patients. Bone marrow/peripheral blood samples from patients at the time of diagnosis and follow-up were processed for immunophenotyping, cytogenetic markers and isolation of DNA and RNA. Samples were screened for the presence of mutations in FLT3 and NPM1 genes using polymerase chain reaction followed by sequencing.
Results: Frequency of FLT3/internal tandem duplication and FLT3/tyrosine kinase domain was found to be 25% and 7% respectively. We observed a high frequency of ...
Source: Indian Journal of Human Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: Suchitra SwaminathanSwati GargManisha MadkaikarMaya GuptaFarah JijinaKanjaksha Ghosh Source Type: research
Methylenetetrahydrofolate reductase C677T variant in Indian children with craniosynostosis: Its role in the pathogenesis, risk of craniosynostosis
Conclusion: C667T polymorphism of the MTHFR gene is unlikely to play a role in the pathogenesis of craniosynostosis though maternal MTHFR C677T polymorphism may be a genetic risk factor. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: Rajeev Kumar PandeyAbid AliAmit SinghSukanya GayanMinu Bajpai Source Type: research
Cost-effectiveness analysis for triple markers serum screening for Down's syndrome in Thai setting
Conclusion: According to this work, the cost per effectiveness of triple markers serum screening is slightly lower than standard amniocentesis test. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: Viroj Wiwanitkit Source Type: research
Genetic diversity of 15 autosomal short tandem repeats loci using the AmpFLSTR ® Identifiler™ kit in a Bhil Tribe Population from Gujarat state, India
Conclusion: Our findings reveal strong genetic affinities seen between the Indo-European (IE) speaking Bhil Tribe of Gujarat and Dravidian groups of South India. (Source: Indian Journal of Human Genetics)
Source: Indian Journal of Human Genetics - October 14, 2014 Category: Genetics & Stem Cells Authors: Ramesh R ChaudhariMS Dahiya Source Type: research
