Review
Genetics & Heredity
Snir Boniel, Krystyna Szymanska, Robert Smigiel, Krzysztof Szczaluba
Summary: Kabuki syndrome is a rare developmental disorder characterized by developmental delay, hypotonia, and distinct dysmorphic features, with pathogenic variants in the KMT2D or KDM6A genes being the main cause. Treatment for patients usually involves comprehensive care to address physical and psychomotor development.
Review
Genetics & Heredity
Kelly K. Barry, Michaelangelo Tsaparlis, Deborah Hoffman, Deborah Hartman, Margaret P. Adam, Christina Hung, Olaf A. Bodamer
Summary: This review examines the current understanding of Kabuki syndrome, a rare neuro-developmental disorder, and highlights the variability in clinical phenotype and the need for further research on clinical management and patient burden.
Article
Endocrinology & Metabolism
Mina Misirligil, Yilmaz Yildiz, Onur Akin, Sevinc Odabasi Gunes, Mutluay Arslan, Bulent Unay
Summary: Kabuki syndrome (KS) is a genetic disorder characterized by distinctive facial features, skeletal anomalies, and neuromotor development delays. It can be caused by mutations in the KMT2D or KDM6A genes, with most patients presenting with hypoglycemia and defects in the KDM6A gene. Early detection of hypoglycemia is essential for preventing progression of neurological symptoms in KS patients.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
(2021)
Letter
Medicine, General & Internal
Young Hee Nam, Colleen M. Brensinger, Warren B. Bilker, James H. Flory, Charles E. Leonard, Sean Hennessy
Summary: This study investigated the association between calcium-channel blockers and insulin secretagogues in reducing serious hypoglycemia rates, suggesting that patients using calcium-channel blockers have a lower incidence of serious hypoglycemia compared to those who do not use them. Further research is needed to determine the exact mechanism behind this effect, and the findings could help guide cardiovascular drug choices for patients on insulin secretagogues.stdexcepts may also need to monitor glucose levels when coadministering calcium-channel blockers with glucose-lowering agents.
Review
Pediatrics
Xiao-xian Deng, Bo-wen Jin, Shan-shan Li, Hong-mei Zhou, Qun-shan Shen, Yun-yan Li
Summary: This paper presents a case of a 3-year-old girl with Kabuki syndrome and concomitant pulmonary hypertension (PH) associated with a KMT2D mutation. The authors suggest differentiating Kabuki syndrome from PH to avoid delay in diagnosis and treatment.
Article
Genetics & Heredity
Jessica R. C. Priestley, Alyssa L. Rippert, Courtney Condit, Kosuke Izumi, Staci Kallish, Theodore G. Drivas
Summary: This study retrospectively reviewed the medical records of eight adult patients with Kabuki syndrome, seven of whom were confirmed molecularly. The results revealed the diagnostic challenges, neurodevelopmental/psychiatric phenotypes, and adult-onset medical complications in this population.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
(2023)
Article
Genetics & Heredity
Rachel T. Stadelmaier, Margaret A. Kenna, Devon Barrett, Thomas E. Mullen, Olaf Bodamer, Pankaj B. Agrawal, Caroline D. Robson, Monica H. Wojcik
Summary: Recognition of distinct phenotypic features is crucial for genetic diagnosis. This study identified a novel gene variant associated with CHARGE syndrome and Kabuki syndrome, and illustrated differences in neuroimaging features that can help differentiate between these disorders. Inner ear anomalies may play a key role in distinguishing these conditions.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2021)
Article
Pediatrics
Shuolin Li, Jing Liu, Yuan Yuan, Aizhen Lu, Fang Liu, Li Sun, Quanli Shen, Libo Wang
Summary: This study reports a rare case of Kabuki syndrome with pneumorrhagia, expanding the phenotypic spectrum of the syndrome. The patient carried a novel missense variant in the KMT2D gene and experienced recurrent pulmonary hemorrhage during treatment.
FRONTIERS IN PEDIATRICS
(2022)
Article
Genetics & Heredity
Allison J. Kalinousky, Tyler Rapp, Hadia Hijazi, Jennifer Johnson, Hans Tomas Bjornsson, Jacqueline R. Harris
Summary: The study found that children with KS have significantly higher levels of anxiety and total behavior problems compared to their unaffected siblings. A large proportion of affected individuals exceeded the established threshold for anxiety, indicating that anxiety is a common feature of KS.
FRONTIERS IN GENETICS
(2022)
Article
Genetics & Heredity
Esra Usluer, Gozde Yesil Sayin, Nilay Gunes, Busra Kasap, Beyhan Tuysuz
Summary: Kabuki syndrome (KS) is a rare disorder characterized by distinct facial features, persistent fingertip pads, and intellectual disability. This study investigated the genetic and clinical characteristics of KS patients and identified new variants in genes associated with KS. All patients had intellectual disability, with 43.2% being severe or moderate.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Cell Biology
Peng Peng, Ying Pan, Xueqing Lu, Hui Xu, Ziwei Zhou, Yuanqing He, Huiru Wang, Changcheng Zheng, Li Zhou
Summary: This study reports a 16-year-old patient with Kabuki syndrome accompanied by ITP, and examines the therapeutic effect of TPO agonist hetrombopag olamine tablets. The duration of maintenance therapy and follow-up was 17 months. Whole exon sequencing revealed a previously unreported heterozygous mutation, c.5775_5778del (p. Leu1926LysfsTer120), in the KMT2D gene.
Article
Multidisciplinary Sciences
Sheng Yi, Xiaofei Zhang, Qi Yang, Jingjing Huang, Xunzhao Zhou, Jiale Qian, Pingshan Pan, Shang Yi, Shujie Zhang, Qiang Zhang, Xianglian Tang, Limei Huang, Qinle Zhang, Zailong Qin, Jingsi Luo
Summary: Kabuki syndrome (KS) is a congenital anomaly syndrome with diverse features. This study describes the clinical characteristics of nine sporadic KS patients, highlighting intellectual disability and short stature as the main features, along with a high prevalence of motor retardation and recurrent otitis media. Whole-exome sequencing identified nine KMT2D variants, including four novel ones. These findings expand the mutation spectrum of KMT2D and provide valuable insights for genetic counseling and treatment optimization.
Article
Pediatrics
Madeline L. Keyes, Helen Healy, Katherine A. Sparger, Lucas E. Orth, Mayya Geha, Sergei Roumiantsev, Juan D. Matute
Summary: Diazoxide is the first-line treatment for refractory hyperinsulinism in neonates, but its use may be associated with an increased risk of necrotizing enterocolitis in this population.
Article
Genetics & Heredity
Eriko Nishi, Noriko Miyake, Rie Kawamura, Kana Hosoki, Yuiko Hasegawa, Naomichi Matsumoto, Nobuhiko Okamoto
Summary: This study investigates the occurrence and clinical significance of craniosynostosis (CS) in individuals with Kabuki syndrome (KS). The study finds that 50% of genetically diagnosed KS individuals exhibit CS, with half of them requiring cranioplasty. There are no significant differences based on sex, causative gene, and molecular consequence among individuals with KS who exhibit CS. The study also highlights that CS can be diagnosed before KS and suggests the importance of monitoring cranial deformities in KS individuals, emphasizing the use of 3DCT evaluations and digital impressions for CS concerns.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Medicine, General & Internal
Hongjiang Zhao, Linzhen Wu, Bin Yang, Hongkai Shang
Summary: Midgut malrotation is a rare congenital abnormality that can present as hyperemesis gravidarum during pregnancy. Close monitoring and conservative treatment are recommended after diagnosis.
Article
Pediatrics
Songpon Getsuwan, Pornthep Tanpowpong, Chatmanee Lertudomphonwanit, Thitiporn Junhasavasdikul, Thipwimol Tim-Aroon, Suporn Treepongkaruna
Summary: This study found that genetic, metabolic, and pancreaticobiliary diseases were the common etiologies of ARP and CP among children in a developing country in Southeast Asia, emphasizing the importance of early etiological diagnosis and monitoring for pancreatic insufficiency in ARP/CP.
PEDIATRICS INTERNATIONAL
(2022)
Article
Cell Biology
Natsumon Udomkittivorakul, Duangrurdee Wattanasirichaigoon, Wiparat Manuyakorn, Pongpak Pongphitcha, Arthaporn Khongkraparn, Padcha Tunlayadechanont, Nongnuch Sirachainan
Summary: This study reported 7 male patients, 2 with WAS and 5 with XLT. Two novel gene mutations associated with WAS were identified, with both patients showing severe clinical phenotypes and one developing fatal intracranial hemorrhage, while the other developed a pineoblastoma.
Article
Pediatrics
Poomiporn Katanyuwong, Arthaporn Khongkraparn, Duangrurdee Wattanasirichaigoon
Summary: Left ventricular non-compaction (LVNC) is a rare and genetically heterogeneous cardiomyopathy that predominantly affects infants and young children. This study presents a rare case of neonatal-onset LVNC and multiple muscular VSD associated with a novel homozygous PKP2 variant. The findings expand the phenotypes and genotypes of PKP2-related disorders and lethal LVNC.
FRONTIERS IN PEDIATRICS
(2022)
Article
Pediatrics
Chanita Prapasrat, Preyaporn Onsod, Veerawat Korkiatsakul, Budsaba Rerkamnuaychoke, Duangrurdee Wattanasirichaigoon, Takol Chareonsirisuthigul
Summary: This study aimed to evaluate the concordance of MS-MLPA test results with conventional techniques in the diagnosis of Prader-Willi syndrome (PWS). The results showed that there was perfect concordance between the MS-MLPA test results and those of the conventional techniques.
JOURNAL OF PEDIATRIC GENETICS
(2022)
Article
Pediatrics
Pongpak Pongphitcha, Nongnuch Sirachainan, Arthaporn Khongkraparn, Thipwimol Tim-Aroon, Duantida Songdej, Duangrurdee Wattanasirichaigoon
Summary: Transcobalamin deficiency should be considered in infants with unexplained pancytopenia and acute hemolytic crisis. A novel homozygous TCN2 mutation was identified in a patient, highlighting the importance of genetic testing in diagnosis.
Article
Cell & Tissue Engineering
Tanapat Pornsukjantra, Kitsada Kangboonruang, Pirut Tong-Ngam, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Usanarat Anurathapan, Suradej Hongeng, Alisa Tubsuwan, Kanit Bhukhai, Nithi Asavapanumas
Summary: In this study, a human induced pluripotent stem cell line for Gaucher disease was established, providing a valuable tool for further investigations.
STEM CELL RESEARCH
(2022)
Article
Genetics & Heredity
Pharuhad Pongmee, Sanchawan Wittayakornrerk, Ramrada Lekwuttikarn, Sasikarn Pakdeeto, Piangor Watcharakuldilok, Chatchay Prempunpong, Thipwimol Tim-Aroon, Chawintee Puttanapitak, Piyawan Wattanasoontornsakul, Thitiporn Junhasavasdikul, Parith Wongkittichote, Saisuda Noojarern, Duangrurdee Wattanasirichaigoon
Summary: This study used whole exome sequencing and targeted gene analysis to determine the clinical features and genetic defects in five patients with EB with CAS. The study identified extremely rare phenotypes, such as congenital cloudy cornea, esophagogastric obstruction, and anuria, and expanded the genotypic spectrum of EB-related genes.
FRONTIERS IN GENETICS
(2022)
Article
Pediatrics
Kirana Veenin, Duangrurdee Wattanasirichaigoon, Bhoom Suktitipat, Saisuda Noojarern, Patcharee Lertrit, Thipwimol Tim-Aroon, Supannee Kaewsutthi, Suporn Treepongkaruna
Summary: This study did not find associations between mtDNA polymorphisms 16519T and 3010A with CVS in pediatric patients. However, it identified five pathogenic variants and eleven VUS that were associated with pediatric-onset CVS.
FRONTIERS IN PEDIATRICS
(2022)
Letter
Hematology
Lunliya Thampratankul, Yusuke Okuno, Patcharee Komvilaisak, Duangrurdee Wattanasirichaigoon, Nongnuch Sirachainan
MEDITERRANEAN JOURNAL OF HEMATOLOGY AND INFECTIOUS DISEASES
(2022)
Article
Biochemistry & Molecular Biology
Lukana Ngiwsara, Phannee Sawangareetrakul, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Prapai Dejkhamron, Voraratt Champattanachai, James R. Ketudat-Cairns, Jisnuson Svasti
Summary: This study investigated the effect of gentamicin on stop codon readthrough of IDUA variants and found that gentamicin significantly increased the expression and activity of IDUA. Changes in RNA secondary structure were observed in variants that responded to readthrough. Further studies in patient's skin fibroblasts and animal models are needed for personalized medicine.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2022)
Article
Genetics & Heredity
Kalyarat Wilaiwongsathien, Duangrurdee Wattanasirichaigoon, Sasivimol Rattanasiri, Chanatpon Aonnuam, Chayada Tangshewinsirikul, Thipwimol Tim-Aroon
Summary: Newborn screening is a public health service used in many countries to screen for treatable conditions, including Thailand. Limited data on parental perspectives and the socio-cultural and economic differences between Western and Asian countries prompted a study to explore parental perspectives on newborn screening in Thailand. The study found that there is good awareness but limited knowledge among parents, and suggests the need for appropriate education during antenatal care.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING
(2023)
Article
Allergy
Chawisa Janjindamai, Wiparat Manuyakorn, Usanarat Anurathapan, Samart Pakakasama, Duangrurdee Wattanasirichaigoon, Wasu Kamchaisatian, Suwat Benjaponpitak, Suradej Hongeng
Summary: Haploidentical HSCT with PTCY may be an effective treatment option for children with CGD.
ASIAN PACIFIC JOURNAL OF ALLERGY AND IMMUNOLOGY
(2022)