NEXMIF Combined with KIDINS220 Gene Mutation Caused Neurodevelopmental Disorder and Epilepsy: One Case Report

被引：0

作者：

Qi, Hongli ^{[1
]}

Pan, Dongju ^{[1
]}

Zhang, Ying ^{[1
]}

Zhu, Yunhui ^{[1
]}

Zhang, Xie ^{[1
]}

Fu, Tingting ^{[1
]}

机构：

[1] Puer Peoples Hosp, Dept Pediat, Puer 665000, Yunnan, Peoples R China

来源：

ACTAS ESPANOLAS DE PSIQUIATRIA | 2024年 / 52卷 / 04期

关键词：

NEXMIF gene mutation; KIDINS220 gene mutation; neu- rodevelopmental disorders; epilepsy; INTELLECTUAL DISABILITY; SPASTIC PARAPLEGIA; VARIANTS;

D O I：

10.62641/aep.v52i4.1625

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

A male infant, 8 months old, was admitted to hospital with cough and fever. The clinical symptoms were found to be mental retardation, obesity, dystonia, movement limitation, and visual retardation. Early development was normal, but after 6 months, the child developed upright head instability, difficulty grasping, and seizures. Conclusion: For male children with unexplained neurodevelopmental disorders and comorbidities such as obesity, dystonia, and seizures, mutations in related genes such as NEXMIF should be considered. Clinical practice should improve genetic testing as early as possible to provide a basis for genetic counseling.

引用

页码：588 / 594

页数：7

共 38 条

[31] G327E mutation in SCN9A gene causes idiopathic focal epilepsy with Rolandic spikes: a case report of twin sisters [J].

Liu, Zhigang ;

Ye, Xingguang ;

Qiao, Peixiu ;

Luo, Weiyao ;

Wu, Yanling ;

He, Yun ;

Gao, Pingming .

NEUROLOGICAL SCIENCES, 2019, 40 (07) :1457-1460

[32] Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review [J].

Bai, Yang ;

Li, Jinhui ;

Wang, Xiaoli .

JOURNAL OF OVARIAN RESEARCH, 2017, 10

[33] Case Report: Charcot-marie-tooth disease caused by a de novo MORC2 gene mutation - novel insights into pathogenicity and treatment [J].

Zhu, Feng ;

Gao, Chengcheng ;

Zhu, Xiangxiang ;

Jiang, Huihua ;

Huang, Mingchun ;

Zhou, Yuanlin .

FRONTIERS IN GENETICS, 2024, 15

[34] A novel homozygous splice donor variant in the LRPPRC gene causing Leigh syndrome with epilepsy, a French-Canadian disorder in a Saudi family: case report [J].

Muthaffar, Osama Y. ;

Abdulkareem, Angham Abdulrhman ;

Ashi, Abrar ;

Naseer, Muhammad Imran .

FRONTIERS IN PEDIATRICS, 2023, 11

[35] Leber's hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G >A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene - case report [J].

Bianco, Angelica ;

Bisceglia, Luigi ;

De Caro, Maria Fara ;

Galeandro, Valeria ;

De Bonis, Patrizia ;

Tullo, Apollonia ;

Zoccolella, Stefano ;

Guerriero, Silvana ;

Petruzzella, Vittoria .

BMC MEDICAL GENETICS, 2018, 19

[36] Familial occurrence of adrenocortical insufficiency in two brothers with Allgrove Syndrome. A case report of 4A (Allgrove) syndrome with epilepsy and a new AAAS gene mutation. [J].

Kurca, E ;

Grofik, M ;

Kucera, P ;

Varsik, P .

NEUROENDOCRINOLOGY LETTERS, 2005, 26 (05) :499-502

[37] X-linked severe combined immunodeficiency complicated by disseminated bacillus Calmette-Guérin disease caused by a novel pathogenic mutation in exon 3 of the IL2RG gene: a case report and literature review [J].

Jiang, Chunxue ;

He, Yunhan ;

Chen, Xin ;

Xia, Fei ;

Shi, Feng ;

Xu, Xuewen ;

Sun, Tingting ;

You, Kai .

FRONTIERS IN IMMUNOLOGY, 2024, 15

[38] Autosomal Dominant Intellectual Development Disorder-6 (MRD6) Without Seizures Linked to a De Novo Mutation in the grin2b Gene Revealed by Exome Sequencing: A Case Report of a Moroccan Child [J].

El Mouhi, Hinde ;

Abbassi, Meriame ;

Sayel, Hanane ;

Trhanint, Said ;

Natiq, Abdelhafid ;

El Hejjioui, Brahim ;

Jalte, Merym ;

Ahmadi, Youssef ;

Chaouki, Sana .

CUREUS JOURNAL OF MEDICAL SCIENCE, 2023, 15 (10)

← 1 2 3 4 →