A de novo PUM1 Variant in a Girl With a Dravet-Like Syndrome: Case Report and Literature Review

被引:2
作者
Ye, Yuanzhen [1 ]
Hu, Zhanqi [1 ]
Mai, Jiahui [1 ]
Chen, Li [1 ]
Cao, Dezhi [1 ]
Liao, Jianxiang [1 ]
Duan, Jing [1 ]
机构
[1] Shenzhen Childrens Hosp, Dept Neurol, Shenzhen, Peoples R China
关键词
PUM1; Dravet syndrome; epilepsy; developmental disability; ataxia; ptosis; PUF FAMILY; NEURODEGENERATION;
D O I
10.3389/fped.2022.759889
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
In the recent 3 years, subjects with Pumilio1-associated developmental disability, ataxia, and seizure syndrome have been identified as harboring Pumilio homolog 1 (PUM1) mutations. However, the characteristics of the seizure phenotype remain to be elucidated. We herein described a 3-year-old female proband who was diagnosed with developmental and epileptic encephalopathy presenting with some features suggestive of a Dravet-like syndrome. For genetic analyses, trio-based whole-exome sequencing and array comparative genomic hybridization were performed. Consequently, a de novo heterozygous missense variant was identified in exon 22 of the PUM1 gene: NM_001020658: c.3439C > T (p.Arg1147Trp). Upon thoroughly reviewing the existing literature, nine cases of PUM1 mutation-related epilepsy were identified, and their clinical features were summarized. A relationship between PUM1 mutation and clinical manifestations characteristic of a Dravet-like syndrome was proposed. To our knowledge, this is the first report of a patient with PUM1 mutation presenting with a Dravet-like syndrome.
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页数:6
相关论文
共 17 条
[1]   PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1 [J].
Bonnemason-Carrere, Paul ;
Morice-Picard, Fanny ;
Pennamen, Perrine ;
Arveiler, Benoit ;
Fergelot, Patricia ;
Goizet, Cyril ;
Hellegouarch, Melanie ;
Lacombe, Didier ;
Plaisant, Claudio ;
Raclet, Virginie ;
Rooryck, Caroline ;
Lasseaux, Eulalie ;
Trimouille, Aurelien .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (06) :1030-1033
[2]   SCA1 TRANSGENIC MICE - A MODEL FOR NEURODEGENERATION CAUSED BY AN EXPANDED CAG TRINUCLEOTIDE REPEAT [J].
BURRIGHT, EN ;
CLARK, HB ;
SERVADIO, A ;
MATILLA, T ;
FEDDERSEN, RM ;
YUNIS, WS ;
DUVICK, LA ;
ZOGHBI, HY ;
ORR, HT .
CELL, 1995, 82 (06) :937-948
[3]   Purkinje Cell Ataxin-1 Modulates Climbing Fiber Synaptic Input in Developing and Adult Mouse Cerebellum [J].
Ebner, Blake A. ;
Ingram, Melissa A. ;
Barnes, Justin A. ;
Duvick, Lisa A. ;
Frisch, Jill L. ;
Clark, H. Brent ;
Zoghbi, Huda Y. ;
Ebner, Timothy J. ;
Orr, Harry T. .
JOURNAL OF NEUROSCIENCE, 2013, 33 (13) :5806-5820
[4]   A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures [J].
Gennarino, Vincenzo A. ;
Palmer, Elizabeth E. ;
McDonell, Laura M. ;
Wang, Li ;
Adamski, Carolyn J. ;
Koire, Amanda ;
See, Lauren ;
Chen, Chun-An ;
Schaaf, Christian P. ;
Rosenfeld, Jill A. ;
Panzer, Jessica A. ;
Moog, Ute ;
Hao, Shuang ;
Bye, Ann ;
Kirk, Edwin P. ;
Stankiewicz, Pawel ;
Breman, Amy M. ;
McBride, Arran ;
Kandula, Tejaswi ;
Dubbs, Holly A. ;
Macintosh, Rebecca ;
Cardamone, Michael ;
Zhu, Ying ;
Ying, Kevin ;
Dias, Kerith-Rae ;
Cho, Megan T. ;
Henderson, Lindsay B. ;
Baskin, Berivan ;
Morris, Paula ;
Tao, Jiang ;
Cowley, Mark J. ;
Dinger, Marcel E. ;
Roscioli, Tony ;
Caluseriu, Oana ;
Suchowersky, Oksana ;
Sachdev, Rani K. ;
Lichtarge, Olivier ;
Tang, Jianrong ;
Boycott, Kym M. ;
Holder, J. Lloyd, Jr. ;
Zoghbi, Huda Y. .
CELL, 2018, 172 (05) :924-+
[5]   Pumilio1 Haploinsufficiency Leads to SCA1-like Neurodegeneration by Increasing Wild-Type Ataxin1 Levels [J].
Gennarino, Vincenzo A. ;
Singh, Ravi K. ;
White, Joshua J. ;
De Maio, Antonia ;
Han, Kihoon ;
Kim, Ji-Yoen ;
Jafar-Nejad, Paymaan ;
di Ronza, Alberto ;
Kang, Hyojin ;
Sayegh, Layal S. ;
Cooper, Thomas A. ;
Orr, Harry T. ;
Sillitoe, Roy V. ;
Zoghbi, Huda Y. .
CELL, 2015, 160 (06) :1087-1098
[6]  
Imaizumi T, 2019, CONGENIT ANOM, V59, P193, DOI 10.1111/cga.12322
[7]   Electroencephalographic features of patients with SCN1A-positive Dravet syndrome [J].
Lee, Hsiu-Fen ;
Chi, Ching-Shiang ;
Tsai, Chi-Ren ;
Chen, Chin-Hsuan ;
Wang, Chi-Chao .
BRAIN & DEVELOPMENT, 2015, 37 (06) :599-611
[8]   Noncoding RNA NORAD Regulates Genomic Stability by Sequestering PUMILIO Proteins [J].
Lee, Sungyul ;
Kopp, Florian ;
Chang, Tsung-Cheng ;
Sataluri, Anupama ;
Chen, Beibei ;
Sivakumar, Sushama ;
Yu, Hongtao ;
Xie, Yang ;
Mendell, Joshua T. .
CELL, 2016, 164 (1-2) :69-80
[9]   Defining Dravet syndrome: An essential pre-requisite for precision medicine trials [J].
Li, Wenhui ;
Schneider, Amy L. ;
Scheffer, Ingrid E. .
EPILEPSIA, 2021, 62 (09) :2205-2217
[10]   Age-related evolution of EEG in Dravet syndrome: Meta-analysis of 155 patients [J].
Minato, Erica ;
Myers, Kenneth A. .
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2021, 91 :108-111