Novel TSC1 and TSC2 gene mutations in Chinese patients with tuberous sclerosis complex

Highlights • We examined 11 patients with tuberous sclerosis complex (TSC). • We utilized PCR to detect potential mutations in the TSC1 and TSC2 gene. • 11 different TSC2 and one TSC1 mutations were identified in the present study. • The findings expanded the spectrum of TSC1 and TSC2 gene mutations...

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Veröffentlicht in:	Clinical neurology and neurosurgery 2017-03, Vol.154, p.104-108
Hauptverfasser:	Yu, Tingting, He, Yingzhong, Li, Niu, Zhou, Yunqing, Wang, Zhiping, Fu, Qihua, Wang, Jiwen, Wang, Jian
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Child Child, Preschool China Deoxyribonucleic acid Diagnosis DNA Epilepsy Families & family life Female Genes Genetic disorders Humans Intellectual disabilities Male Mutation Neurology Neurosurgery Patients Point mutation Signal transduction Skin TSC1 TSC2 Tuberous Sclerosis - genetics Tuberous sclerosis complex Tumor Suppressor Proteins - genetics
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Beschreibung
Zusammenfassung:	Highlights • We examined 11 patients with tuberous sclerosis complex (TSC). • We utilized PCR to detect potential mutations in the TSC1 and TSC2 gene. • 11 different TSC2 and one TSC1 mutations were identified in the present study. • The findings expanded the spectrum of TSC1 and TSC2 gene mutations.
ISSN:	0303-8467 1872-6968
DOI:	10.1016/j.clineuro.2017.01.015