Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report

被引:0
|
作者
Reka, Gabriela [1 ]
Wojciechowska, Katarzyna [1 ]
Lejman, Monika [1 ]
机构
[1] Med Univ, Lab Genet Diagnost, Dept Paediat 2, Lublin, Poland
关键词
Wiedemann-Steiner syndrome; KMT2A gene; whole-exome sequencing; PATHOGENIC VARIANT; MUTATIONS; KMT2A;
D O I
10.26444/aaem/163063
中图分类号
X [环境科学、安全科学];
学科分类号
08 ; 0830 ;
摘要
Introduction. Wiedemann-Steiner syndrome is caused by mutations in the KMT2A gene (11q23.3). It might be inherited autosomal dominant or appear de novo. Features described in the syndrome include developmental delay, short stature, hypotonia, hypertrichosis, facial dysmorphic features, and intellectual disability.Case Report. A boy aged 5.5 months was admitted to the Genetics Outpatient Clinic due to delayed psychomotor development. Microsomia, hypotonia, joint laxity, and facial dysmorphic features were noticed. No genomic imbalance was found in microarray, based on comparative genomic hybridization. The c.3528G>T variant of the KMT2A gene was identified on chromosome 11 of the missense type in next-generation sequencing. The reasons for phenotypic features were confirmed in genetic research.Conclusions. Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.
引用
收藏
页码:577 / 579
页数:3
相关论文
共 50 条
  • [41] Case Report: Exome and RNA Sequencing Identify a Novel de novo Missense Variant in HNRNPK in a Chinese Patient With Au-Kline Syndrome
    Pan, Xin
    Liu, Sihan
    Liu, Li
    Zhang, Xu
    Yao, Hong
    Tan, Bo
    FRONTIERS IN GENETICS, 2022, 13
  • [42] Familial juvenile polyposis syndrome with a de novo germline missense variant inBMPR1Agene: a case report
    Liu, Qing
    Liu, Mengling
    Liu, Tianshu
    Yu, Yiyi
    BMC MEDICAL GENETICS, 2020, 21 (01)
  • [43] De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review
    Siano, Maria Anna
    De Maggio, Ilaria
    Petillo, Roberta
    Cocciadiferro, Dario
    Agolini, Emanuele
    Majolo, Massimo
    Novelli, Antonio
    Della Monica, Matteo
    Piscopo, Carmelo
    PEDIATRIC REPORTS, 2022, 14 (01) : 131 - 139
  • [44] A novel de novo GABRA2 gene missense variant causing developmental epileptic encephalopathy in a Chinese patient
    Yang, Li
    Wan, Xingyu
    Hua, Ran
    Jiang, Junhong
    Wang, Baotian
    Tao, Rui
    Wu, De
    ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY, 2025, 12 (01): : 137 - 148
  • [45] Menkes disease: a case report of patient with de novo novel variant in ATP7A gene
    Miljanovic, O.
    Jovanovic, J.
    Teofilov, S.
    Ostojic, T.
    Bulatovic, M.
    Likic, D.
    Stellmer, F.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 930 - 930
  • [46] Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case report
    Rossi, Jessica
    Russo, Marco
    Gobbi, Giuseppe
    Terracciano, Alessandra
    Zuntini, Roberta
    Caraffi, Stefano Giuseppe
    Novelli, Antonio
    Garavelli, Livia
    Valzania, Franco
    Rizzi, Romana
    BRAIN & DEVELOPMENT, 2023, 45 (08): : 445 - 450
  • [47] A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report
    Moon, Jung-Eun
    Lee, Su-Jeong
    Ko, Cheol Woo
    BMC MEDICAL GENETICS, 2018, 19
  • [48] A Case of Okur-Chung Neurodevelopmental Syndrome with a Novel, de novo Variant on the CSNK2A1 Gene in a Turkish Patient
    Zhuri, Drenushe
    Dusenkalkan, Fulya
    Tunca Alparslan, Guzin
    Gurkan, Hakan
    MOLECULAR SYNDROMOLOGY, 2023, 15 (01) : 43 - 50
  • [49] Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient
    Kaur, Simranpreet
    Van Bergen, Nicole J.
    Gold, Wendy Anne
    Eggers, Stefanie
    Lunke, Sebastian
    White, Susan M.
    Ellaway, Carolyn
    Christodoulou, John
    CLINICAL CASE REPORTS, 2019, 7 (12): : 2476 - 2482
  • [50] Identification of a novel de novo mutation in the NIPBL gene in an Iranian patient with Cornelia de Lange syndrome: A case report
    Galehdari H.
    Monajemzadeh R.
    Nazem H.
    Mohamadian G.
    Pedram M.
    Journal of Medical Case Reports, 5 (1)