First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient.
First case report of cerebral folate deficiency caused by a novel mutation of FOLR1 gene in a Chinese patient.
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中国首例FOLR1基因新突变导致脑叶酸缺乏症患者报告
DOI：
10.1186/s12881-020-01162-3
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发表时间：
2020-11-26
影响因子：
--
通讯作者：
Peng J
中科院分区：
文献类型：
--
作者：
Zhang C;Deng X;Wen Y;He F;Yin F;Peng J
背景
Background
Cerebral folate deficiency (CFD) is a neurological disease, hallmarked by remarkable low concentrations of 5-methyltetrahydrofolic acid (5-MTHF) in cerebrospinal fluid (CSF). The primary causes of CFD include the presence of folate receptor (FR) autoantibodies, defects of FR encoding gene FOLR1, mitochondrial diseases and congenital abnormalities in folate metabolism.
Case presentation
Here we first present a Chinese male CFD patient whose seizure onset at 2 years old with convulsive status epilepticus. Magnetic Resonance Imaging (MRI) revealed the development of encephalomalacia, laminar necrosis in multiple lobes of the brain and cerebellar atrophy. Whole Exome Sequencing (WES) uncovered a homozygous missense variant of c.524G T (p.C175F) in FOLR1 gene. Further laboratory tests demonstrated the extremely low level of 5-MTHF in the CSF from this patient, which was attributed to cerebral folate transport deficiency. Following the intravenous and oral treatment of calcium folinate, the concentrations of 5-MTHF in CSF were recovered to the normal range and seizure symptoms were relieved as well.
Conclusions
One novel variation of FOLR1 was firstly identified from a Chinese male patient with tonic-clonic seizures, developmental delay, and ataxia. The WES and laboratory results elucidated the etiology of the symptoms. Clinical outcomes were improved by early diagnosis and proper treatment.
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影响因子：
3.8
作者：
Ramaekers, VT;Blau, N
通讯作者：
Blau, N
影响因子：
9.8
作者：
Steinfeld, Robert;Grapp, Marcel;Gaertner, Jutta
通讯作者：
Gaertner, Jutta
影响因子：
1.7
作者：
Kobayashi, Yu;Tohyama, Jun;Matsumoto, Naomichi
通讯作者：
Matsumoto, Naomichi
影响因子：
3.8
作者：
Dill, Patricia;Schneider, Jacques;Blau, Nenad
通讯作者：
Blau, Nenad
DOI：
10.1212/nxg.0000000000000038
发表时间：
2016-02
期刊：
Neurology. Genetics
影响因子：
--
作者：
Ferreira P;Luco SM;Sawyer SL;Davila J;Boycott KM;Dyment DA
通讯作者：
Dyment DA