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Author Vorasuk Shotelersuk

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Diagnosis of Hyper IgM syndrome in a Previously Healthy Adolescent Boy Presented with Cutaneous and Cerebral Cryptococcosis.

Athipat Athipongarporn, Chupong Ittiwut, Wiparat Manuyakorn, Surapat Assawawiroonhakarn, Noppadol Larbcharoensub, Vorasuk Shotelersuk,

X-linked hyper IgM (X-HIGM) syndrome is a combined immunodeficiency disease caused by mutations in the CD40LG gene, leading to a defect in immunoglobulin (Ig) class switching recombination and effector T-cell responses. X-HIGM patients usually present in early life with pyogenic bacterial and opportunistic infections. Herein, we report a previously healthy ... Read more >>

Pediatr Infect Dis J (The Pediatric infectious disease journal)
[2021, 40(1):e18-e20]

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Clinical and molecular characteristics of Thai patients with ELANE-related neutropaenia.

Rungnapa Ittiwut, Kunlapat Sengpanich, Supanun Lauhasurayotin, Chupong Ittiwut, Vorasuk Shotelersuk, Darintr Sosothikul, Kanya Suphapeetiporn,

<h4>Aims</h4>Congenital neutropaenia is a rare inherited disorder that mainly affects neutrophils causing severe infection. Mutations in several genes have been implicated in the disease pathogenesis. The genetic defects may vary in different populations, influenced by ethnicity and geographical location. Here we describe the clinical and genotypic characteristics of seven unrelated ... Read more >>

J Clin Pathol (Journal of clinical pathology)
[2020, :]

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A Pathogenic Variant in ALPK3 Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy.

Chanatjit Cheawsamoot, Chureerat Phokaew, Wanna Chetruengchai, Poonchavist Chantranuwat, Sarinya Puwanant, Sissades Tongsima, Apichai Khongphatthanayothin, Vorasuk Shotelersuk,

Circ Genom Precis Med (Circulation. Genomic and precision medicine)
[2020, 13(6):e003127]

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Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability.

Chupong Ittiwut, Sathida Poonmaksatit, Ponghatai Boonsimma, Tayard Desudchit, Kanya Suphapeetiporn, Rungnapa Ittiwut, Vorasuk Shotelersuk,

<h4>Background</h4>In approximately half of patients with epilepsy and intellectual disability (ID), the cause is unidentified and could be a mutation in a new disease gene.<h4>Patient description</h4>To determine the discovery of disease-causing mutation in a female patient with epilepsy and ID, we performed trio whole-exome sequencing, reverse transcription polymerase chain reaction ... Read more >>

Brain Dev (Brain & development)
[2020, :]

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Phenotypic and Genotypic Features of Thai Patients With Nonsyndromic Tooth Agenesis and WNT10A Variants.

Charinya Kanchanasevee, Kanokwan Sriwattanapong, Thanakorn Theerapanon, Sermporn Thaweesapphithak, Wanna Chetruengchai, Thantrira Porntaveetus, Vorasuk Shotelersuk,

Tooth agenesis is one of the most common orodental anomalies that demonstrate phenotypic and genotypic heterogeneity with a prevalence of 2.5%-7%. Mutations in <i>WNT10A</i> have been proposed to be the most common cause of nonsyndromic tooth agenesis (NSTA). The aim of this study was to characterize the dental features and ... Read more >>

Front Physiol (Frontiers in physiology)
[2020, 11:573214]

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Whole exome sequencing for diagnosis of hereditary thrombocytopenia.

Ponthip Mekchay, Chupong Ittiwut, Rungnapa Ittiwut, Benjaporn Akkawat, Supang Maneesri Le Grand, Netchanok Leela-Adisorn, Suwanna Muanpetch, Weerapan Khovidhunkit, Darintr Sosothikul, Vorasuk Shotelersuk, Kanya Suphapeetiporn, Ponlapat Rojnuckarin,

Hereditary thrombocytopenia comprises extremely diverse diseases that are difficult to diagnose by phenotypes alone. Definite diagnoses are helpful for patient (Pt) management.To evaluate the role of whole exome sequencing (WES) in these Pts.Cases with unexplained long-standing thrombocytopenia and/or suggestive features were enrolled to the observational study. Bleeding scores and blood ... Read more >>

Medicine (Baltimore) (Medicine)
[2020, 99(47):e23275]

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Expanding phenotypic and mutational spectra of mitochondrial HMG-CoA synthase deficiency.

Kitiwan Rojnueangnit, Parisa Maneechai, Patcharapa Thaweekul, Punnapat Piriyanon, Sookkasem Khositseth, Chupong Ittiwut, Wanna Chetruengchai, Wuttichart Kamolvisit, Thanakorn Theerapanon, Kanya Suphapeetiporn, Thantrira Porntaveetus, Vorasuk Shotelersuk,

Mitochondrial 3-hydroxy-3 methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) is a rare autosomal recessive inborn error of hepatic ketogenesis, caused by mutations in HMGCS2. As its clinical and laboratory manifestations resemble many other metabolic disorders, HMGCS2D definite diagnosis presents a challenge, frequently requiring molecular tests. Only 26 patients with HMGCS2 mutations have been ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(12):104086]

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Founder effect of the TTTCA repeat insertions in SAMD12 causing BAFME1.

Patra Yeetong, Chaipat Chunharas, Monnat Pongpanich, Mark F Bennett, Chalurmpon Srichomthong, Nath Pasutharnchat, Kanya Suphapeetiporn, Melanie Bahlo, Vorasuk Shotelersuk,

Benign adult familial myoclonic epilepsy type 1 (BAFME1) in several Japanese and Chinese families has recently been found to be caused by pentanucleotide repeat expansions in SAMD12. We identified a Thai family with six members affected with BAFME. Microsatellite studies suggested a linkage to the BAFME1 region on chromosome 8q24. ... Read more >>

Eur J Hum Genet (European journal of human genetics : EJHG)
[2020, :]

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Tooth ultrastructure of a novel COL1A2 mutation expanding its genotypic and phenotypic spectra.

Narin Intarak, Thunyaporn Budsamongkol, Thanakorn Theerapanon, Theerapat Chanamuangkon, Anucharte Srijunbarl, Lawan Boonprakong, Thantrira Porntaveetus, Vorasuk Shotelersuk,

<h4>Objectives</h4>To investigate tooth ultrastructure and mutation of two patients in a family affected with osteogenesis imperfecta (OI) type IV and dentinogenesis imperfecta (DGI).<h4>Methods</h4>Mutations were detected by whole exome and Sanger sequencing. The permanent second molar obtained from the proband (DGI1) and the primary first molar from his affected son (DGI2) ... Read more >>

Oral Dis (Oral diseases)
[2020, :]

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Coinherited Hemoglobin H/Constant Spring Disease and Heterozygous Hemoglobin Tak Causing Severe Hemolytic Anemia in a Thai Boy.

Chane Choed-Amphai, Arunee Phusua, Chupong Ittiwut, Pimlak Charoenkwan, Kanya Suphapeetiporn, Vorasuk Shotelersuk,

Hemoglobin (Hb) H/Constant Spring disease is a common nondeletional Hb H disease, typically causing a more severe phenotype than the deletional Hb H disease counterpart. Hb Tak, resulting from a dinucleotide insertion (+AC) at codon 146 of beta-globin gene, has an increased oxygen affinity and usually presents with polycythemia. We ... Read more >>

J Pediatr Hematol Oncol (Journal of pediatric hematology/oncology)
[2020, :]

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Nagashima-Type Palmoplantar Keratosis with Compound Heterozygous Mutations in SERPINB7.

Chankiat Songsantiphap, Jirat Suwanwatana, Chupong Ittiwut, Pravit Asawanonda, Pawinee Rerknimitr, Vorasuk Shotelersuk,

Nagashima-type palmoplantar keratosis (NPPK) is a diffuse, non-syndromic (isolated), autosomal recessive palmoplantar keratoderma (PPK) with transgredients. It is characterized by non-progressive mild to moderate transgredient PPK. The mutation in <i>SERPINB7</i> is reported to underlie the condition. Though many case reports/series have demonstrated various mutations in <i>SERPINB7</i>, the genotype-phenotype correlation in ... Read more >>

Case Rep Dermatol (Case reports in dermatology)
[2020, 12(3):241-248]

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Congenital myasthenic syndromes in the Thai population: Clinical findings and novel mutations.

Nalinee Pattrakornkul, Chupong Ittiwut, Ponghatai Boonsimma, Kanokwan Boonyapisit, Chaiyos Khongkhatithum, Oranee Sanmaneechai, Kanya Suphapeetiporn, Vorasuk Shotelersuk,

Congenital myasthenic syndromes (CMS) comprise a heterogeneous group of genetic disorders of the neuromuscular junction. Next generation sequencing has been increasingly used for molecular diagnosis in CMS patients. This study aimed to identify the disease-causing variants in Thai patients. We recruited patients with a diagnosis of CMS based on clinical ... Read more >>

Neuromuscul Disord (Neuromuscular disorders : NMD)
[2020, 30(10):851-858]

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Double heterozygous variants in FBN1 and FBN2 in a Thai woman with Marfan and Beals syndromes.

Chureerat Phokaew, Rekwan Sittiwangkul, Kanya Suphapeetiporn, Vorasuk Shotelersuk,

A phenotype of an individual is resulted from an interaction among variants in several genes. Advanced molecular technologies allow us to identify more patients with mutations in more than one genes. Here, we studied a Thai woman with combined clinical features of Marfan (MFS) and Beals (BS) syndromes including frontal ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(9):103982]

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Dosage Optimization of Efavirenz Based on a Population Pharmacokinetic-Pharmacogenetic Model of HIV-infected Patients in Thailand.

Piyawat Chaivichacharn, Anchalee Avihingsanon, Weerawat Manosuthi, Sasiwimol Ubolyam, Siraprapa Tongkobpetch, Vorasuk Shotelersuk, Baralee Punyawudho,

<b>Purpose: </b>Efavirenz exhibits high interindividual variability in plasma concentrations, leading to unpredictable efficacy and toxicity. Polymorphism of CYP2B6 516G > T has been found to predominantly contribute to efavirenz variability. However, dosage recommendations incorporating CYP2B6 516G > T polymorphism have not been investigated in the Thai population. This study aimed to develop a population ... Read more >>

Clin Ther (Clinical therapeutics)
[2020, 42(7):1234-1245]

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Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.

Ponghatai Boonsimma, Marius Michael Gasser, Wiracha Netbaramee, Thanin Wechapinan, Chalurmpon Srichomthong, Chupong Ittiwut, Matias Wagner, Martin Krenn, Fritz Zimprich, Angela Abicht, Saskia Biskup, Timo Roser, Ingo Borggraefe, Kanya Suphapeetiporn, Vorasuk Shotelersuk,

<h4>Background</h4>Mutations in the ATP1A3 gene are known to be the cause of three distinct neurological syndromes including alternating hemiplegia of childhood (AHC), rapid-onset dystonia parkinsonism (RDP) and cerebellar ataxia, arefexia, pes cavus, optic atrophy and sensorineural hearing impairment (CAPOS). Recent studies have suggested the broader diversity of ATP1A3-related disorders. This ... Read more >>

Gene (Gene)
[2020, 749:144709]

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A case of GABRA5-related developmental and epileptic encephalopathy with response to a combination of antiepileptic drugs and a GABAering agent.

Ponghatai Boonsimma, Sirorat Suwannachote, Chureerat Phokaew, Chupong Ittiwut, Kanya Suphapeetiporn, Vorasuk Shotelersuk,

BACKGROUND:GABAA receptors are ligand-gated chloride channels that regulate inhibitory neurotransmission in the central nervous system. Recently, monoallelic de novo mutations in GABRA5 resulting in altered inhibitory synapses were found in three patients with developmental and epileptic encephalopathy. Patient description: We report on a four-year and six-month-old girl with epilepsy and ... Read more >>

Brain Dev (Brain & development)
[2020, 42(7):546-550]

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Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra.

Issree Nitayavardhana, Thanakorn Theerapanon, Chalurmpon Srichomthong, Sakkayaphab Piwluang, Duangdao Wichadakul, Thantrira Porntaveetus, Vorasuk Shotelersuk,

Amelogenesis imperfecta type IG (AI1G) is caused by mutations in FAM20A. Genotypic and phenotypic features of AI1G are diverse and their full spectra remain to be characterized. The aim of this study was to identify and summarize variants in FAM20A in a broad population of patients with AI1G. We identified ... Read more >>

Mol Genet Genomics (Molecular genetics and genomics : MGG)
[2020, 295(4):923-931]

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Severe craniofrontonasal syndrome in a male patient mosaic for a novel nonsense mutation in EFNB1.

Varote Shotelersuk, Wuttichart Kamolvisit, Nond Rojvachiranonda, Kanya Suphapeetiporn, Thantrira Porntaveetus, Vorasuk Shotelersuk,

Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by mutations in EFNB1. Uncommonly and paradoxically, female patients with CFNS exhibit significantly more severe symptoms than male patients. This is explained by "cellular interference". Nevertheless, there have been a few reports of male patients severely affected with CFNS due to postzygotic ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(6):103924]

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A family with homozygous and heterozygous p.Gly337Ser mutations in COL1A2.

Wandee Udomchaiprasertkul, Chulaluck Kuptanon, Thantrira Porntaveetus, Vorasuk Shotelersuk,

Osteogenesis imperfecta (OI) is commonly caused by monoallelic mutations in COL1A1 or COL1A2. Biallelic mutations are extremely rare. Only five previous reports have identified seven OI patients with homozygous mutations in COL1A2. OI is a genetically and phenotypically heterogeneous disorder which challenges an establishment of genotype-phenotype correlation. Notably, more than ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, 63(6):103896]

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ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.

Marius Gasser, Ponghatai Boonsimma, Wiracha Netbaramee, Thanin Wechapinan, Chalurmpon Srichomthomg, Chupong Ittiwut, Martin Krenn, Fritz Zimprich, Ivan Milenkovic, Angela Abicht, Saskia Biskup, Timo Roser, Vorasuk Shotelersuk, Moritz Tacke, Marianne Kuersten, Matias Wagner, Ingo Borggraefe, Kanya Suphapeetiporn, Celina von Stülpnagel,

ATP1A3 related disease is a clinically heterogeneous condition currently classified as alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss. Recently, it has become apparent that a remarkably large subgroup is suffering from often difficult-to-treat epilepsy. The aim of the present ... Read more >>

J Clin Neurosci (Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia)
[2020, 72:31-38]

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Turner syndrome in diverse populations.

Paul Kruszka, Yonit A Addissie, Cedrik Tekendo-Ngongang, Kelly L Jones, Sarah K Savage, Neerja Gupta, Nirmala D Sirisena, Vajira H W Dissanayake, C Sampath Paththinige, Teresa Aravena, Sheela Nampoothiri, Dhanya Yesodharan, Katta M Girisha, Siddaramappa Jagdish Patil, Saumya Shekhar Jamuar, Jasmine Chew-Yin Goh, Agustini Utari, Nydia Sihombing, Rupesh Mishra, Neer Shoba Chitrakar, Brenda C Iriele, Ezana Lulseged, Andre Megarbane, Annette Uwineza, Elizabeth Eberechi Oyenusi, Oluwarotimi Bolaji Olopade, Olufemi Adetola Fasanmade, Milagros M Duenas-Roque, Meow-Keong Thong, Joanna Y L Tung, Gary T K Mok, Nicole Fleischer, Godfrey M Rwegerera, María Beatriz de Herreros, Johnathan Watts, Karen Fieggen, Victoria Huckstadt, Angélica Moresco, María Gabriela Obregon, Dalia Farouk Hussen, Neveen A Ashaat, Engy A Ashaat, Brian H Y Chung, Eben Badoe, Sultana M H Faradz, Mona O El Ruby, Vorasuk Shotelersuk, Ambroise Wonkam, Ekanem Nsikak Ekure, Shubha R Phadke, Antonio Richieri-Costa, Maximilian Muenke,

Turner syndrome (TS) is a common multiple congenital anomaly syndrome resulting from complete or partial absence of the second X chromosome. In this study, we explore the phenotype of TS in diverse populations using clinical examination and facial analysis technology. Clinical data from 78 individuals and images from 108 individuals ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2020, 182(2):303-313]

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A novel deletion in the fibrinogen beta chain (FGB) gene causing hypofibrinogenemia.

Arunothai Rakmanotham, Rungnapa Ittiwut, Patcharee Komwilaisak, Vorasuk Shotelersuk, Darintr Sosothikul, Kanya Suphapeetiporn,

Thromb Res (Thrombosis research)
[2020, 186:26-29]

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TTTCA repeat insertions in an intron of YEATS2 in benign adult familial myoclonic epilepsy type 4.

Patra Yeetong, Monnat Pongpanich, Chalurmpon Srichomthong, Adjima Assawapitaksakul, Varote Shotelersuk, Nithiphut Tantirukdham, Chaipat Chunharas, Kanya Suphapeetiporn, Vorasuk Shotelersuk,

Epilepsy is a common neurological disorder and identification of its causes is important for a better understanding of its pathogenesis. We previously studied a Thai family with a type of epilepsy, benign adult familial myoclonic epilepsy type 4 (BAFME4), and localized its gene to chromosome 3q26.32-q28. Here, we used single-molecule ... Read more >>

Brain (Brain : a journal of neurology)
[2019, 142(11):3360-3366]

Cited: 5 times

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Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions.

Chupong Ittiwut, Wiparat Manuyakorn, Siraprapa Tongkobpetch, Suwat Benjaponpitak, Megan R Fisher, Joshua D Milner, Jonathan J Lyons, Kanya Suphapeetiporn, Vorasuk Shotelersuk,

J Clin Immunol (Journal of clinical immunology)
[2020, 40(1):227-231]

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A patient with combined pituitary hormone deficiency and osteogenesis imperfecta associated with mutations in LHX4 and COL1A2.

Nalinee Hemwong, Chureerat Phokaew, Chalurmpon Srichomthong, Siraprapa Tongkobpetch, Khomsak Srilanchakon, Vichit Supornsilchai, Kanya Suphapeetiporn, Thantrira Porntaveetus, Vorasuk Shotelersuk,

Genetic disorders have been shown to co-occur in individual patient. A Thai boy with features of osteogenesis imperfecta (OI) and combined pituitary hormone deficiency (CPHD) was identified. The causative mutations were investigated by whole exome and Sanger sequencing. Pathogenicity and pathomechanism of the variants were studied by luciferase assay. The ... Read more >>

J Adv Res (Journal of advanced research)
[2020, 21:121-127]

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