Fine mapping and whole-exome sequencing of a familial cortical myoclonic tremor with epilepsy family

Zhi dong Cen, Fei Xie, Dan ning Lou, Xing jiao Lu, Zhi yuan Ouyang, Ling Liu, Jin Cao, Dan Li, Hou min Yin, Zhong jin Wang, Jianfeng Xiao, Wei Luo

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Familial cortical myoclonic tremor with epilepsy (FCMTE) is an autosomal dominant epilepsy syndrome. Four loci, including 8q24 (FCMTE1), 2p11.1-q12.2 (FCMTE2), 5p15.31-p15.1 (FCMTE3), and 3q26.32-3q28 (FCMTE4) were previously reported. Herein, we report a new FCMTE1 pedigree from Chinese population with its clinical and genetic study results. Whole genome scan was performed to identify the causative gene region and copy number variants. Whole-exome sequencing was used to identify the causative gene. There were twelve affected members alive in this FCMTE1 pedigree. Nine affected members had both cortical myoclonic tremor and epilepsy, while three affected members had only cortical myoclonic tremor. Electrophysiologic examinations manifested giant somatosensory evoked potentials and long-latency cortical reflex in some affected members. Whole genome scan identified a 20.4Mb causative gene region at 8q22.3-q24.13. No copy number variants were identified as the causative mutation. Whole-exome sequencing identified a co-segregated mutation (c.206A>T; p.Y69F) in the SLC30A8 gene. However, the evidence supporting this gene as the causative gene of FCMTE1 is not enough. We report the first Chinese FCMTE1 pedigree. No copy number variants, point mutation or small insertion/deletion were detected in the identified region that showed an association with FCMTE1. Further studies could focus on other possible genetic mechanisms while the association between the SLC30A8 and FCMTE1 needs further evidence.

Original languageEnglish (US)
Pages (from-to)595-599
Number of pages5
JournalAmerican Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Volume168
Issue number7
DOIs
StatePublished - Oct 1 2015

Fingerprint

Exome
Pedigree
Genes
Tremor
Genome
Myoclonic Epilepsy
Mutation
Somatosensory Evoked Potentials
Gene Dosage
Point Mutation
Reflex
Epilepsy
Epilepsy, Myoclonic, Benign Adult Familial, Type 1
Population

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience

Cite this

Fine mapping and whole-exome sequencing of a familial cortical myoclonic tremor with epilepsy family. / Cen, Zhi dong; Xie, Fei; Lou, Dan ning; Lu, Xing jiao; Ouyang, Zhi yuan; Liu, Ling; Cao, Jin; Li, Dan; Yin, Hou min; Wang, Zhong jin; Xiao, Jianfeng; Luo, Wei.

In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 168, No. 7, 01.10.2015, p. 595-599.

Research output: Contribution to journalArticle

Cen, Zhi dong ; Xie, Fei ; Lou, Dan ning ; Lu, Xing jiao ; Ouyang, Zhi yuan ; Liu, Ling ; Cao, Jin ; Li, Dan ; Yin, Hou min ; Wang, Zhong jin ; Xiao, Jianfeng ; Luo, Wei. / Fine mapping and whole-exome sequencing of a familial cortical myoclonic tremor with epilepsy family. In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. 2015 ; Vol. 168, No. 7. pp. 595-599.
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T1 - Fine mapping and whole-exome sequencing of a familial cortical myoclonic tremor with epilepsy family

AU - Cen, Zhi dong

AU - Xie, Fei

AU - Lou, Dan ning

AU - Lu, Xing jiao

AU - Ouyang, Zhi yuan

AU - Liu, Ling

AU - Cao, Jin

AU - Li, Dan

AU - Yin, Hou min

AU - Wang, Zhong jin

AU - Xiao, Jianfeng

AU - Luo, Wei

PY - 2015/10/1

Y1 - 2015/10/1

N2 - Familial cortical myoclonic tremor with epilepsy (FCMTE) is an autosomal dominant epilepsy syndrome. Four loci, including 8q24 (FCMTE1), 2p11.1-q12.2 (FCMTE2), 5p15.31-p15.1 (FCMTE3), and 3q26.32-3q28 (FCMTE4) were previously reported. Herein, we report a new FCMTE1 pedigree from Chinese population with its clinical and genetic study results. Whole genome scan was performed to identify the causative gene region and copy number variants. Whole-exome sequencing was used to identify the causative gene. There were twelve affected members alive in this FCMTE1 pedigree. Nine affected members had both cortical myoclonic tremor and epilepsy, while three affected members had only cortical myoclonic tremor. Electrophysiologic examinations manifested giant somatosensory evoked potentials and long-latency cortical reflex in some affected members. Whole genome scan identified a 20.4Mb causative gene region at 8q22.3-q24.13. No copy number variants were identified as the causative mutation. Whole-exome sequencing identified a co-segregated mutation (c.206A>T; p.Y69F) in the SLC30A8 gene. However, the evidence supporting this gene as the causative gene of FCMTE1 is not enough. We report the first Chinese FCMTE1 pedigree. No copy number variants, point mutation or small insertion/deletion were detected in the identified region that showed an association with FCMTE1. Further studies could focus on other possible genetic mechanisms while the association between the SLC30A8 and FCMTE1 needs further evidence.

AB - Familial cortical myoclonic tremor with epilepsy (FCMTE) is an autosomal dominant epilepsy syndrome. Four loci, including 8q24 (FCMTE1), 2p11.1-q12.2 (FCMTE2), 5p15.31-p15.1 (FCMTE3), and 3q26.32-3q28 (FCMTE4) were previously reported. Herein, we report a new FCMTE1 pedigree from Chinese population with its clinical and genetic study results. Whole genome scan was performed to identify the causative gene region and copy number variants. Whole-exome sequencing was used to identify the causative gene. There were twelve affected members alive in this FCMTE1 pedigree. Nine affected members had both cortical myoclonic tremor and epilepsy, while three affected members had only cortical myoclonic tremor. Electrophysiologic examinations manifested giant somatosensory evoked potentials and long-latency cortical reflex in some affected members. Whole genome scan identified a 20.4Mb causative gene region at 8q22.3-q24.13. No copy number variants were identified as the causative mutation. Whole-exome sequencing identified a co-segregated mutation (c.206A>T; p.Y69F) in the SLC30A8 gene. However, the evidence supporting this gene as the causative gene of FCMTE1 is not enough. We report the first Chinese FCMTE1 pedigree. No copy number variants, point mutation or small insertion/deletion were detected in the identified region that showed an association with FCMTE1. Further studies could focus on other possible genetic mechanisms while the association between the SLC30A8 and FCMTE1 needs further evidence.

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