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| 1 | Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome显示文摘Peutz-Jeghers syndrome(PJS) ,a rare autosomal dominant inherited disorder,is characterized by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation.Patients with this syndrome have a predisposition to a variety of cancers in multiple organs.Mutations in the serine/threonine kinase 11(STK11) gene have been identified as a major cause of PJS.Here we present the clinical and molecular findings of two unrelated Thai individuals with PJS.Mutation analysis by Polymerase Chain Reaction-sequencing of the entire coding region of STK11 revealed two potentially pathogenic mutations.One harbored a single nucleotide deletion(c.182delG) in exon 1 resulting in a frameshift leading to premature termination at codon 63(p.Gly61AlafsX63) .The other carried an in-frame 9-base-pair(bp) deletion in exon 7,c.907_915del9(p.Ile303_Gln305del) .Both deletions were de novo and have never been previously described.This study has expanded the genotypic spectrum of the STK11 gene. | Surasawadee Ausavarat Petcharat Leoyklang Paisarn Vejchapipat Voranush Chongsrisawat Kanya Suphapeetiporn Vorasuk Shotelersuk | 2009 | World Journal of Gastroenterology2009，15，42： | 8 |
| 2 | Decreased osteogenic activity and mineralization of alveolar bone cells from a patient with amelogenesis imperfecta and FAM83H 1261G>T mutation显示文摘FAM83H mutations lead to autosomal dominant hypocalcified amelogenesis imperfecta(ADHCAI).However,the biological role of FAM83H remains unclear.The present study aimed to characterize the alveolar bone cells isolated from a patient with ADHCAI having the mutation,c.1261G>T,p.E421*,in FAM83H.We showed that FAM83H mutant cells had proliferation ability and morphology similar to the controls.The F-actin staining revealed that FAM83H mutant cells were remained in the earlier stages of cell spreading compared to the controls at 30 min,but their spreading was advanced comparable to the controls at later stages.After osteogenic induction,a significant decrease in mRNA levels of RUNX2 and ALP was observed in FAM83H mutant cells at day 7 compared with day 3 while their expressions were increased in the controls.The OPN levels in FAM83H mutant cells were not significantly changed at day 7 compared to day 3 while the controls showed a significant increase.After 14 days,the mineral deposition of FAM83H mutant cells was slightly lower than that of the controls.In conclusion,we identify that FAM83H bone cells have lower expression of osteogenic marker genes and mineralization while they maintain their morphology,proliferation,and spreading.Consistent with previous studies in the ameloblasts and periodontal ligamental cells,these evidences propose that FAM83H influences osteogenic differentiation across different cell types in oral cavity. | Nunthawan Nowwarote Thanaphum Osathanon Kiattipan Kanjana Thanakorn Theerapanon Thantrira Porntaveetus Vorasuk Shotelersuk | 2019 | Genes & Diseases2019，6，4： | 2 |
| 3 | Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia显示文摘 | Nithiwat Vatanavicharn Voraratt Champattanachai Somporn Liammongkolkul Phannee Sawangareetrakul Siriporn Keeratichamroen James R. Ketudat Cairns Chantragan Srisomsap Achara Sathienkijkanchai Vorasuk Shotelersuk Mahattana Kamolsilp Duangrurdee Wattanasiric | 2012 | Molecular Genetics and Metabolism2012，，4： | 1 |
| 4 | The genomic region encompassing the nephropathic cystinosis gene (CTNS):complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion显示文摘 | Jeffrey W Touchman YA Nicde LD Valerie V Braden M Geraldine MD Vorasuk S | 2000 | Genome Res2000，10，： | 1 |
| 5 | A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly显示文摘Osteogenesis imperfecta(OI)is mainly characterized by bone fragility and Ehlers-Danlos syndrome(EDS)by connective tissue defects.Mutations in COL1A1 or COL1A2 can lead to both syndromes.OI/EDS overlap syndrome is mostly caused by helical mutations near the amino-proteinase cleavage site of type Ⅰ procollagen.In this study,we identified a Thai patient having OI type Ⅲ,EDS,brachydactyly,and dentinogenesis imperfecta.His dentition showed delayed eruption,early exfoliation,and severe malocclusion.For the first time,ultrastructural analysis of the tooth affected with OI/EDS showed that the tooth had enamel inversion,bonelike dentin,loss of dentinal tubules,and reduction in hardness and elasticity,suggesting severe developmental disturbance.These severe dental defects have never been reported in OI or EDS.Exome sequencing identified a novel de novo heterozygous glycine substitution,c.3296G>A,p.Gly1099Glu,in exon 49 of COL1A2.Three patients with mutations in the exon 49 of COL1A2 were previously reported to have OI with brachydactyly and intracranial hemorrhage.Notably,two of these three patients did not show hyperextensible joints and hypermobile skin,while our patient at the age of 5 years had not developed intracranial hemorrhage.Here,we demonstrate that the novel glycine substitution in the carboxyl region of alpha2(Ⅰ)collagen triple helix leads to OI/EDS with brachydactyly and severe tooth defects,expanding the genotypic and phenotypic spectra of OI/EDS overlap syndrome. | Thunyaporn Budsamongkol Narin Intarak Thanakorn Theerapanon Somchai Yodsanga Thantrira Porntaveetus Vorasuk Shotelersuk | 2019 | Genes & Diseases2019，6，2： | 1 |
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