Full Text Journal Articles by
Author Chupong Ittiwut

Advertisement

Find full text journal articles






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]

Cited: 0 times

View full text PDF listing >>



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, :]

Cited: 0 times

View full text PDF listing >>



Advertisement

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, :]

Cited: 0 times

View full text PDF listing >>



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]

Cited: 0 times

View full text PDF listing >>



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]

Cited: 0 times

View full text PDF listing >>



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]

Cited: 0 times

View full text PDF listing >>



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, :]

Cited: 0 times

View full text PDF listing >>



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]

Cited: 0 times

View full text PDF listing >>



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]

Cited: 0 times

View full text PDF listing >>



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]

Cited: 0 times

View full text PDF listing >>



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]

Cited: 0 times

View full text PDF listing >>



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]

Cited: 0 times

View full text PDF listing >>



A Novel GNAS Mutation Causing Isolated Infantile Cushing's Syndrome.

Prapai Dejkhamron, Chupong Ittiwut, Hataitip TangNgam, Kanokkarn Sunkonkit, Rungrote Natesirinilkul, Kanya Suphapeetiporn, Vorasuk Shotelersuk,

Infantile Cushing's syndrome is potentially found as part of McCune-Albright syndrome (MAS) which is caused by postzygotic somatic mutations of the GNAS gene. MAS is typically characterized by a triad of polyostotic fibrous dysplasia, café-au-lait skin pigmentation, and precocious puberty or other endocrine hyperfunction. Here, we describe a 2-month-old female ... Read more >>

Horm Res Paediatr (Hormone research in paediatrics)
[2019, 92(3):196-202]

Cited: 0 times

View full text PDF listing >>



Discrepancy in the degree of polycythemia in a family with a novel nonsense EPOR mutation.

Chitsanupong Ratarat, Chupong Ittiwut, Rungrote Natesirinilkul, Lalita Sathitsamitpong, Kanda Fanhchaksai, Pimlak Charoenkwan, Kanya Suphapeetiporn, Vorasuk Shotelersuk,

Int J Hematol (International journal of hematology)
[2019, 110(5):640-641]

Cited: 0 times

View full text PDF listing >>



Female-restricted syndromic intellectual disability in a patient from Thailand.

Thivaratana Sinthuwiwat, Chupong Ittiwut, Thantrira Porntaveetus, Vorasuk Shotelersuk,

Female-restricted syndromic intellectual disability (ID) is a neurodevelopmental disorder with developmental delay (DD)/ID, facial dysmorphism, and diverse congenital anomalies comprising heart defects, anal anomalies, choanal atresia, postaxial polydactyly, scoliosis, and brain abnormalities. Loss-of-function mutations in the USP9X gene inherited as X-linked dominance were identified as its etiology in females of ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2019, 179(5):758-761]

Cited: 1 time

View full text PDF listing >>



Whole exome sequencing revealed mutations in FBXL4, UNC80, and ADK in Thai patients with severe intellectual disabilities.

Chulaluck Kuptanon, Chalurmpon Srichomthong, Chupong Ittiwut, Thanin Wechapinan, Somjit Sri-Udomkajorn, Orawan Iamopas, Chureerat Phokaew, Kanya Suphapeetiporn, Vorasuk Shotelersuk,

Intellectual disabilities (ID) are etiologically heterogeneous. Advanced molecular techniques could be helpful in identification of the underlying genetic defects. We aimed to characterize clinical and molecular features of three Thai patients with ID. Patient 1 had ID, hypotonia and lactic acidosis. Patient 2 had ID and growth failure. Patient 3 ... Read more >>

Gene (Gene)
[2019, 696:21-27]

Cited: 2 times

View full text PDF listing >>



The phenotypic and mutational spectrum of Thai female patients with ornithine transcarbamylase deficiency.

Voranush Chongsrisawat, Ponghatai Damrongphol, Chupong Ittiwut, Rungnapa Ittiwut, Kanya Suphapeetiporn, Vorasuk Shotelersuk,

Ornithine transcarbamylase deficiency (OTCD) is an X-linked urea cycle disorder affecting both males and females. Hemizygous males commonly present with severe hyperammonemic encephalopathy during the neonatal period. Heterozygous females have great phenotypic variability. The majority of female patients can manifest later in life or have unrecognized symptoms, making the diagnosis ... Read more >>

Gene (Gene)
[2018, 679:377-381]

Cited: 5 times

View full text PDF listing >>



Novel mutations in SPTA1 and SPTB identified by whole exome sequencing in eight Thai families with hereditary pyropoikilocytosis presenting with severe fetal and neonatal anaemia.

Chupong Ittiwut, Rungrote Natesirinilkul, Fuanglada Tongprasert, Lalita Sathitsamitphong, Chane Choed-Amphai, Kanda Fanhchaksai, Pimlak Charoenkwan, Kanya Suphapeetiporn, Vorasuk Shotelersuk,

Br J Haematol (British journal of haematology)
[2019, 185(3):578-582]

Cited: 2 times

View full text PDF listing >>



Erratum: Missing Sentence and Word.

Witchuree Wejjakul, Swist Chatmaitri, Thongek Wattanarojanaporn, Anuwat Pongkunakorn, Chupong Ittiwut, Vorasuk Shotelersuk,

[This corrects the article on p. 54 in vol. 7.]. ... Read more >>

J Orthop Case Rep (Journal of orthopaedic case reports)
[2018, 8(1):97]

Cited: 0 times

View full text PDF listing >>



Novel mutations in Thai patients with glanzmann thrombasthenia.

Rungnapa Ittiwut, Pintip Suchartlikitwong, Yaowaree Kittikalayawong, Chupong Ittiwut, Karan Prasopsanti, Darintr Sosothikul, Vorasuk Shotelersuk, Kanya Suphapeetiporn,

<h4>Objectives</h4>Glanzmann thrombasthenia (GT) is an autosomal recessive platelet disorder, caused by defects of the platelet integrin αIIbβ3 (GPIIb/IIIa) resulting from pathogenic mutations in either ITGA2B or ITGB3. It is characterized by spontaneous mucocutaneous bleeding. The molecular features of GT in Thailand have not been identified. This study aimed to determine ... Read more >>

Eur J Haematol (European journal of haematology)
[2017, 99(6):520-524]

Cited: 1 time

View full text PDF listing >>



Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand.

Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk,

<h4>Background</h4>Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency caused by alterations in genes involved in tetrahydrobiopterin (BH4) biosynthesis pathway. Dietary restriction of phenylalanine is considered to be the main treatment of PKU to prevent irreversible intellectual ... Read more >>

BMC Med Genet (BMC medical genetics)
[2017, 18(1):102]

Cited: 2 times

View full text PDF listing >>



Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review.

Witchuree Wejjakul, Swist Chatmaitri, Thongek Wattanarojanaporn, Anuwat Pongkunakorn, Chupong Ittiwut, Vorasuk Shotelersuk,

Introduction:Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by mutations of the CYP27A1 gene and deficiency of the sterol-27-hydroxylase enzyme in bile acid biosynthesis. It is characterized by the accumulation of cholestanol and bile alcohols in plasma, the formation of xanthomatous lesions in various tissues, and ... Read more >>

J Orthop Case Rep (Journal of orthopaedic case reports)
[2017, 7(5):54-58]

Cited: 0 times

View full text PDF listing >>



Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.

Chupong Ittiwut, Jaturong Pratuangdejkul, Vichit Supornsilchai, Sasipa Muensri, Yodporn Hiranras, Taninee Sahakitrungruang, Suttipong Watcharasindhu, Kanya Suphapeetiporn, Vorasuk Shotelersuk,

<h4>Background</h4>Abnormalities of dihydrotestosterone conversion [5α-reductase deficiency: online Mendelian inheritance in man (OMIM) 607306] or actions of androgens [partial androgen insensitivity syndrome (PAIS): OMIM 312300] during the 8th-12th weeks of gestation cause varying degrees of undervirilized external genitalia in 46, XY disorders of sex development (DSD) with increased testosterone production. The ... Read more >>

J Pediatr Endocrinol Metab (Journal of pediatric endocrinology & metabolism : JPEM)
[2017, 30(1):19-26]

Cited: 4 times

View full text PDF listing >>



Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI.

Chupong Ittiwut, Sukanya Boonbuamas, Chalurmpon Srichomthong, Rungnapa Ittiwut, Kanya Suphapeetiporn, Vorasuk Shotelersuk,

<h4>Objective</h4>Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome), a rare autosomal recessive lysosomal storage disease, is caused by mutations in the N-acetylgalactosamine-4-sulfatase (arylsulfatase B, or ARSB) gene, resulting in a deficiency of ARSB activity. This study aimed to characterize the clinical and molecular features of four unrelated Thai patients with MPS ... Read more >>

Genet Test Mol Biomarkers (Genetic testing and molecular biomarkers)
[2017, 21(1):58-62]

Cited: 4 times

View full text PDF listing >>



Variants of the CDH1 (E-Cadherin) Gene Associated with Oral Clefts in the Thai Population.

Rungnapa Ittiwut, Chupong Ittiwut, Pichit Siriwan, Vichai Chichareon, Kanya Suphapeetiporn, Vorasuk Shotelersuk,

<h4>Objective</h4>The etiology of oral clefts in humans is genetically complex and mutations in multiple genes have been linked with clefting. CDH1 (E-cadherin) has been found to be involved in lip and palate development, and CDH1 mutations are associated with oral clefts in some populations.<h4>Materials and methods</h4>To determine if there is ... Read more >>

Genet Test Mol Biomarkers (Genetic testing and molecular biomarkers)
[2016, 20(7):406-409]

Cited: 8 times

View full text PDF listing >>



Advertisement

Disclaimer
1.3351 s