Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep.
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep.
复制标题
DOI：
10.1002/mgg3.2311
复制
发表时间：
2024-01
影响因子：
2
通讯作者：
中科院分区：
文献类型：
--
作者：
Biallelic pathogenic variants in the mitochondrial prolyl‐tRNA synthetase 2 gene (PARS2, OMIM * 612036) have been associated with Developmental and Epileptic Encephalopathy‐75 (DEE‐75, MIM #618437). This condition is typically characterized by early‐onset refractory infantile spasms with hypsarrhythmia, intellectual disability, microcephaly, cerebral atrophy with hypomyelination, lactic acidemia, and cardiomyopathy. Most affected individuals do not survive beyond the age of 10 years. We describe a patient with early‐onset DEE, consistently showing an EEG pattern of Spike‐and‐Wave Activation in Sleep (SWAS) since childhood. The patient underwent extensive clinical, metabolic and genetic investigations, including whole exome sequencing (WES). WES analysis identified compound heterozygous variants in PARS2 that have been already reported as pathogenic. A literature review of PARS2‐associated DEE, focusing mainly on the electroclinical phenotype, did not reveal the association of SWAS with pathogenic variants in PARS2. Notably, unlike previously reported cases with the same genotype, this patient had longer survival without cardiac involvement or lactic acidosis, suggesting potential genetic modifiers contributing to disease variability. These findings widen the genetic heterogeneity of DEE‐SWAS, including PARS2 as a causative gene in this syndromic entity, and highlight the importance of prolonged sleep EEG recording for the recognition of SWAS as a possible electroclinical evolution of PARS2‐related DEE. We first describe a patient with early onset developmental and epileptic encephalopathy and a pattern of spike‐and‐wave activation in sleep (DEE‐SWAS) since childhood. WES analysis identified biallelic pathogenic variants in PARS2. Our findings expand the genetic heterogeneity of DEE‐SWAS to include PARS2 as a causative gene and highlight the importance of prolonged sleep‐EEG recording for recognition of SWAS as an electroclinical evolution of PARS2‐DEE.
登录
查看更多内容
影响因子：
2.9
作者：
Kessi M;Peng J;Yang L;Xiong J;Duan H;Pang N;Yin F
通讯作者：
Yin F
影响因子：
30.8
作者：
Carvill, Gemma L.;Regan, Brigid M.;Yendle, Simone C.;O'Roak, Brian J.;Lozovaya, Natalia;Bruneau, Nadine;Burnashev, Nail;Khan, Adiba;Cook, Joseph;Geraghty, Eileen;Sadleir, Lynette G.;Turner, Samantha J.;Tsai, Meng-Han;Webster, Richard;Ouvrier, Robert;Damiano, John A.;Berkovic, Samuel F.;Shendure, Jay;Hildebrand, Michael S.;Szepetowski, Pierre;Scheffer, Ingrid E.;Mefford, Heather C.
通讯作者：
Mefford, Heather C.
DOI：
10.1038/s41436-018-0138-x
发表时间：
2019-03
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Maddirevula S;Alzahrani F;Al-Owain M;Al Muhaizea MA;Kayyali HR;AlHashem A;Rahbeeni Z;Al-Otaibi M;Alzaidan HI;Balobaid A;El Khashab HY;Bubshait DK;Faden M;Yamani SA;Dabbagh O;Al-Mureikhi M;Jasser AA;Alsaif HS;Alluhaydan I;Seidahmed MZ;Alabbasi BH;Almogarri I;Kurdi W;Akleh H;Qari A;Al Tala SM;Alhomaidi S;Kentab AY;Salih MA;Chedrawi A;Alameer S;Tabarki B;Shamseldin HE;Patel N;Ibrahim N;Abdulwahab F;Samira M;Goljan E;Abouelhoda M;Meyer BF;Hashem M;Shaheen R;AlShahwan S;Alfadhel M;Ben-Omran T;Al-Qattan MM;Monies D;Alkuraya FS
通讯作者：
Alkuraya FS
影响因子：
2
作者：
Sofou, Kalliopi;Kollberg, Gittan;Holmstrom, Maria;Davila, Marcela;Darin, Niklas;Gustafsson, Claes M.;Holme, Elisabeth;Oldfors, Anders;Tulinius, Mar;Asin-Cayuela, Jorge
通讯作者：
Asin-Cayuela, Jorge
影响因子：
3.5
作者：
Ciara, Elzbieta;Rokicki, Dariusz;Pronicka, Ewa
通讯作者：
Pronicka, Ewa