Chinese Journal of Medical Genetics 2014;31(6):770-773

doi:10.3760/cma.j.issn.1003-9406.2014.06.020

Gene diagnosis for a child with tuberous sclerosis.

Yan ZHANG 1 2 ; Hongke DING ; Aihua YIN ; Xiaozhuang ZHANG

Affiliations

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Country

China

Language

Chinese

Abstract

OBJECTIVETo identify the pathogenic mutation in a family affected with tuberous sclerosis.

METHODSFor the proband and its parents, mutational hotspots in the 11 exons of TSC1 and TSC2 gene were analyzed with DNA sequencing and bioinformatics tools.

RESULTSA heterozygous c.4493G>C missense mutation was identified in the proband. The same mutation was however not found in the parents.

CONCLUSIONThe missense mutation c.4493G>C probably underlie the tuberous sclerosis complex seen in the child.