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Dysferlinopathy refers to a variety of autosomal recessive, skeletal muscle disorders due to the mutations of dysferlin-encoding gene, DYSF. It encompasses limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM), distal... more
Dysferlinopathy refers to a variety of autosomal recessive, skeletal muscle disorders due to the mutations of dysferlin-encoding gene, DYSF. It encompasses limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM), distal myopathy with anterior tibial onset (DMAT), isolated hyperCKemia, rigid spine syndrome and congenital muscular dystrophy. Herein, we report five Thai patients with distal myopathy due to dysferlinopathy including four
Research Interests: Genetics, Skeletal muscle biology, Family, Thailand, Membrane Proteins, and 17 moreImmunohistochemistry, Limb Girdle Muscular Dystrophy, Western blotting, Muscle strength, Humans, Mutation, Female, Male, Young Adult, Creatine Kinase, Clinical Sciences, Introns, Middle Aged, Skeletal Muscle, Adult, Autosomal Recessive, and Neurosciences
We have previously developed a long RT-PCR method for selective amplification of full-length PKD1 transcripts (13.6 kb) and a long-range PCR for amplification in the reiterated region (18 kb) covering exons 14 and 34 of the PKD1 gene.... more
We have previously developed a long RT-PCR method for selective amplification of full-length PKD1 transcripts (13.6 kb) and a long-range PCR for amplification in the reiterated region (18 kb) covering exons 14 and 34 of the PKD1 gene. These have provided us with an opportunity to study PKD1 mutations especially in its reiterated region which is difficult to examine. In this report, we have further developed the method of multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP) for analysis of PKD1 mutations in the patients with autosomal dominant polycystic kidney disease (ADPKD). Novel and de novo PKD1 mutations are identified and reported. Full-length PKD1 cDNA isolated from the patients with ADPKD was fractionated into nine overlapping segments by nested-PCR. Each segment was digested with sets of combined restriction endonucleases before the SSCP analysis. The fragments with aberrant migration were mapped, isolated, and sequenced. The presence of mutation...
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Several studies have revealed the association between single nucleotide polymorphisms (SNPs) in the first intron of fat mass and obesity-associated (FTO) gene and obesity. To date, more than 100 SNPs in the FTO gene have been identified... more
Several studies have revealed the association between single nucleotide polymorphisms (SNPs) in the first intron of fat mass and obesity-associated (FTO) gene and obesity. To date, more than 100 SNPs in the FTO gene have been identified in various populations. Nevertheless, this association has not yet been confirmed in Thai populations. The aim of this study was to investigate whether FTO variants are associated with obesity in Thais. We analyzed ten variants in the FTO gene (rs9939609, rs9926289, rs8050136, rs9930501, rs9930506, rs9940646, rs9940128, rs1421085, rs17817449, and rs8043757) in 12 families (83 persons); composed of 12 proband cases and 71 associated family members. All participants were genotyped using polymerase chain reaction (PCR) method and DNA sequencing assay. We found significant associations between three SNPs located in the first intron of FTO gene (rs1421085, rs17817449, and rs8043757) and obesity. The odds ratios were 2.82 (95% CI, 1.16-6.90, p=0.02) for rs1421085 and rs17817449, and 3.15 (95% CI, 1.28-7.76, p=0.01) for rs8043757. Strong linkage disequilibrium among ten SNPs was observed (D'>0.8). Haplotype analysis (combination of rs1421085 (T/C), rs17817449 (T/G), and rs8043757 (A/T)) showed that the CGT haplotype is associated with an increased risk of obesity (OR, 2.42; 95% CI, 1.18-4.97; p=0.018) when compared to the reference haplotype (TTA). The SNPs rs1421085, rs17817449 and rs8043757 in the first intron of the FTO gene are associated with increasing risk of obesity in Thais.
Research Interests: Genetics, Obesity, Adolescent, Humans, Child, and 7 moreHaplotypes, Female, Male, Proteins, Gene, Introns, and Asian Continental Ancestry Group
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A number of common mutations in the hemoglobin beta (HBB) gene cause beta-thalassemia, a monogenic disease with high prevalence in certain ethnic groups. As there are 30 HBB variants that cover more than 99.5% of HBB mutant alleles in the... more
A number of common mutations in the hemoglobin beta (HBB) gene cause beta-thalassemia, a monogenic disease with high prevalence in certain ethnic groups. As there are 30 HBB variants that cover more than 99.5% of HBB mutant alleles in the Thai population, an efficient and cost-effective screening method is required. Three panels of multiplex primer extensions, followed by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry were developed. The first panel simultaneously detected 21 of the most common HBB mutations, while the second panel screened nine additional mutations, plus seven of the first panel for confirmation; the third panel was used to confirm three HBB mutations, yielding a 9-Da mass difference that could not be clearly distinguished by the previous two panels. The protocol was both standardized using 40 samples of known genotypes and subsequently validated in 162 blind samples with 27 different genotypes (including a normal control), comprising ...
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Research Interests: Cytokines, Public Health, Apoptosis, Gene expression, Biological Sciences, and 16 moreHumans, Change detection, Female, Male, Cell Death, Scrub Typhus, Middle Aged, Microarray Analysis, Adult, Endothelial cell, Monocytes, Gene Expression Programming, Orientia tsutsugamushi, Host Pathogen Interactions, Gene Expression Regulation, and Gene expression profiling
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ABSTRACT Liddle's syndrome is a rare form of autosomal dominant hypertension with early penetrance and cardiovascular sequelae. It is caused by missense or frameshift mutations in the epithelial sodium channel (ENaC) gene... more
ABSTRACT Liddle's syndrome is a rare form of autosomal dominant hypertension with early penetrance and cardiovascular sequelae. It is caused by missense or frameshift mutations in the epithelial sodium channel (ENaC) gene resulting in excessive salt and water resorption from the distal nephron, volume expansion, and suppression of plasma renin activity and serum aldosterone secretion. Treatment with an antagonist of the amiloride-sensitive ENaC, amiloride or triamterine, can correct hypertension and biochemical abnormalities in Liddle's syndrome by closing the sodium channels. Missense and truncation mutations at the C-terminus of the ENaC gene have been found in two of the three genes encoding beta- and gamma-subunits of ENaC. We report here a Thai family with Liddle's syndrome caused by a novel P615H missense mutation in the proline-rich domain of the SCNN1B gene coding for the beta-subunit of ENaC. This mutation occurs within the conserved proline-rich (PY) motif at the C-terminal end and emphasizes the critical role of this motif in ENaC internalization. The presence of severe hypertension and/or a suggestive family history of hypertension with or without hypokalemia in young children should always raise a suspicion of Liddle's syndrome.
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WD is an autosomal recessive disorder of copper transport resulting in excessive copper deposition in the liver and brain. It is caused by defects of ATP7B encoding a copper transporting P-type ATPase. To identify the mutations in ATP7B... more
WD is an autosomal recessive disorder of copper transport resulting in excessive copper deposition in the liver and brain. It is caused by defects of ATP7B encoding a copper transporting P-type ATPase. To identify the mutations in ATP7B in Thai patients with WD, DHPLC analysis was applied to detect mutations and polymorphisms of the entire ATP7B gene in 19 Thai patients with WD. Mutations in ATP7B were identified in 14 of 19 patients: 2 homozygotes, 8 compound heterozygotes and 4 heterozygotes. Eighteen mutations distributed throughout the entire coding region of ATP7B gene including 11 missense, 3 nonsense, 1 splice-site, 1 deletion and 2 insertions. Of 18 different mutations identified, 6 were found to be novel. Twelve single nucleotide polymorphisms (SNPs) were also identified and two SNPs have not yet previously been reported. Segregation analysis using DHPLC analysis showed mutation transmission patterns within each family of Thai patients with WD. Mutations in ATP7B in Thai patients with WD are worth adding into the public database for genetic epidemiology and population genetics.
Research Interests: Genetics, Genetic Epidemiology, Polymorphism, Population Genetics, Family, and 12 moreThailand, Humans, Mutation, Copper, Pedigree, Clinical Sciences, Genotype, Single Nucleotide Polymorphism, Asian Continental Ancestry Group, Autosomal Recessive, Hepatolenticular degeneration, and Inheritance Patterns
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FLT3 mutations have been reported to be the most frequent mutation in acute myeloid leukemia (AML). No data currently exist regarding FLT3 mutations in Southeast Asian patients. In this study, the incidence and type of FLT3 mutation in a... more
FLT3 mutations have been reported to be the most frequent mutation in acute myeloid leukemia (AML). No data currently exist regarding FLT3 mutations in Southeast Asian patients. In this study, the incidence and type of FLT3 mutation in a large series of Thai AML patients were determined. FLT3 internal tandem duplication (ITD) mutations were observed in 24.6%, FLT3 tyrosine kinase
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Research Interests: Genetic Epidemiology, Computational Biology, Feature Selection, Biological Sciences, Genetics of complex disease, and 15 moreHumans, Mathematical Sciences, BMC Bioinformatics, Transcription Factor, Multifactor Dimensionality Reduction, Genotype, Single Nucleotide Polymorphism, Interaction model, Large Scale, Permutation Test, Case Control Study, Type 2 Diabetes Mellitus, Autosomal Recessive, Parkinson Disease, and Case Control Studies
Research Interests: Membrane Proteins, Adolescent, Humans, Child, Mutation, and 17 moreFemale, Blood, Asia, Male, Young Adult, Pedigree, Phenotype, Iron Overload, Hemochromatosis, Clinical Sciences, Middle Aged, Antimicrobial Cationic Peptides, Genotype, Adult, Consanguinity, Asian Continental Ancestry Group, and Amino Acid Sequence
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Research Interests: Genetics, Intellectual Disability, Humans, Child, Female, and 5 moreMale, Karyotyping, Clinical Sciences, Trisomy 21, and Adult
A Thai woman, who was affected with neurofibromatosis type 1, was followed up and re-evaluated at ages 45, 61, and 67 years. Her mother and her three brothers were also affected. The proposita was very severely affected. She was born... more
A Thai woman, who was affected with neurofibromatosis type 1, was followed up and re-evaluated at ages 45, 61, and 67 years. Her mother and her three brothers were also affected. The proposita was very severely affected. She was born blind with underdeveloped eyeglobes and had large plexiform neurofibromas on her face. Her eyelids were gigantic and tears drained from the orifice between them. Cutaneous neurofibromas were observed all over her body. A novel mutation c.4821delA was identified in NF1 gene, which predicted truncation of neurofibromin (p.Leu1607fs).
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Advances in understanding the genetic basis of renal disorders will soon allow for the clinical use of genetic diagnostic testing. In this article, we review renal diseases with a known genetic basis and the current methods available for... more
Advances in understanding the genetic basis of renal disorders will soon allow for the clinical use of genetic diagnostic testing. In this article, we review renal diseases with a known genetic basis and the current methods available for genetic testing. We then examine the potential medical indications for genetic testing, with special attention to autosomal dominant polycystic kidney disease (ADPKD). Because clinicians will be faced with patients considering genetic testing, we review the ethical considerations regarding genetic testing for renal diseases, recent genetic privacy legislation, and the special role genetic testing may have in transplantation. We conclude with a review of the necessary elements of informed consent, which provides the ethical foundation for patients deciding about genetic testing with the assistance of their physicians.