Case Report: Gut and spleen anomalies associated with DYRK1A syndrome

被引：0

作者：

Infantino, I. ^{[1
]}

Tocchioni, F. ^{[2
]}

Ghionzoli, M. ^{[2
]}

Coletta, R. ^{[2
]}

Morini, F. ^{[1
]}

Morabito, A. ^{[1
]}

机构：

[1] Univ Florence, Dept Neurosci Psychol Drug Res & Child Hlth NEUROF, Florence, Italy

[2] Univ Florence, Meyers Children Hosp, Dept Pediat Surg, Florence, Italy

来源：

FRONTIERS IN PEDIATRICS | 2023年 / 10卷

关键词：

spleen abnormalities; gut abnormalities; DYRK1A; intestinal obstruction; splenectomy; INTELLECTUAL DISABILITY; EXPRESSION; MUTATIONS;

D O I：

10.3389/fped.2022.936732

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

DYRK1A syndrome has been extensively studied primarily with regard to neurologic and other phenotypic features such as skeleton and craniofacial alterations. In the present paper, we aim to highlight unusual anomalies associated with a DYRK1A mutation: a 17-year-old female patient with language and cognitive delay, microcephaly, and an autistic disorder, who was operated upon for spleen torsion with anomalous gut fixation.

引用

页数：4

共 50 条

[21] A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report
Qiao, Fengchang
Shao, Binbin
Wang, Chen
Wang, Yan
Zhou, Ran
Liu, Gang
Meng, Lulu
Hu, Ping
Xu, Zhengfeng
FRONTIERS IN GENETICS, 2019, 10
[22] Case report: A novel de novo deletion mutation of DYRK1A is associated with intellectual developmental disorder, autosomal dominant 7
Zhou, Cong
Zhu, Hongmei
Xiang, Qinqin
Mai, Jingqun
Wang, Xihan
Wang, Jing
Liu, Shanling
FRONTIERS IN NEUROSCIENCE, 2023, 17
[23] DYRK1A: A Potential Drug Target for Multiple Down Syndrome Neuropathologies
Becker, Walter
Soppa, Ulf
Tejedor, Francisco J.
CNS & NEUROLOGICAL DISORDERS-DRUG TARGETS, 2014, 13 (01) : 26 - 33
[24] Down syndrome and DYRK1A overexpression: relationships and future therapeutic directions
Murphy, Aidan J.
Wilton, Steve D.
Aung-Htut, May T.
Mcintosh, Craig S.
FRONTIERS IN MOLECULAR NEUROSCIENCE, 2024, 17
[25] Understanding the Multifaceted Role of Human Down Syndrome Kinase DYRK1A
Kay, L. J.
Smulders-Srinivasan, T. K.
Soundararajan, M.
INSIGHTS INTO ENZYME MECHANISMS AND FUNCTIONS FROM EXPERIMENTAL AND COMPUTATIONAL METHODS, 2016, 105 : 127 - 171
[26] Influence of prenatal EGCG treatment and Dyrk1a dosage reduction on craniofacial features associated with Down syndrome
McElyea, Samantha D.
Starbuck, John M.
Tumbleson-Brink, Danika M.
Harrington, Emily
Blazek, Joshua D.
Ghoneima, Ahmed
Kula, Katherine
Roper, Randall J.
HUMAN MOLECULAR GENETICS, 2016, 25 (22) : 4856 - 4869
[27] Cerebellar alterations in a model of Down syndrome: The role of the Dyrk1A gene
Garcia-Cerro, Susana
Vidal, Veronica
Lantigua, Sara
Teresa Berciano, Maria
Lafarga, Miguel
Ramos-Cabrer, Pedro
Padro, Daniel
Rueda, Noemi
Martinez-Cue, Carmen
NEUROBIOLOGY OF DISEASE, 2018, 110 : 206 - 217
[28] Involvement of Dyrk1A, a down syndrome candidate gene, in the thalamocortical connectivity
Martinez De Lagran, M.
Ruiz-Mejias, M.
Sanchez-Vives, M.
Dierssen, M.
EUROPEAN NEUROPSYCHOPHARMACOLOGY, 2019, 29 : S444 - S445
[29] A high-performance liquid chromatography assay for Dyrk1a, a Down syndrome-associated kinase
Bui, Linh C.
Tabouy, Laure
Busi, Florent
Dupret, Jean-Marie
Janel, Nathalie
Planque, Chris
Delabar, Jean-Maurice
Rodrigues-Lima, Fernando
Dairou, Julien
ANALYTICAL BIOCHEMISTRY, 2014, 449 : 172 - 178
[30] Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature
Luco, Stephanie M.
Pohl, Daniela
Sell, Erick
Wagner, Justin D.
Dyment, David A.
Daoud, Hussein
BMC MEDICAL GENETICS, 2016, 17

← 1 2 3 4 5 →