Novel mutation in the TSC2 gene associated with prenatally diagnosed cardiac rhabdomyomas and cerebral tuberous sclerosis
Journal
Journal of the Formosan Medical Association
Journal Volume
105
Journal Issue
7
Pages
599-603
Date Issued
2006
Author(s)
Abstract
Cardiac rhabdomyomas are prenatal echocardiographic markers for tuberous sclerosis complex (TSC). TSC is caused by mutations in the genes TSC1 and TSC2. We report a 28-year-old, gravida 5, para 2, woman with an uncomplicated pregnancy until prenatal ultrasound at 34 weeks' gestation revealed fetal cardiac tumors. Ultrafast magnetic resonance imaging (MRI) at 3 6 weeks' gestation showed cardiac rhabdomyomas and small subependymal tubers. At 39 weeks' gestation, a 2262 g female infant was delivered uneventfully. Postnatal echocardiography confirmed cardiac rhabdomyomas and MRI verified small cerebral subependymal tubers. Mutational analysis of TSC1 and TSC2 genes using denaturing high-performance liquid chromatography and direct sequencing of the genes was performed and revealed that the parents had wildtype DNA, while the proband was heterozygous for a novel de novo nonsense mutation, c.4830 G > A, in exon 36 of the TSC2 gene, resulting in a change of codon 1610 TGG (tryptophan) to TGA (stop codon). The mutation predicted a W1610X premature termination of the tuberin protein. These findings support an association between a TSC2 de novo nonsense mutation and prenatally detected cardiac rhabdomyomas and cerebral tuberous sclerosis. Familial molecular analysis of TSC1 and TSC2 in cases with prenatally diagnosed cardiac rhabdomyomas and cerebral tuberous sclerosis lesions is helpful in prenatal diagnosis and genetic counseling. ? 2006 Elsevier & Formosan Medical Association.
Subjects
Cardiac rhabdomyoma; Cerebral tuberous sclerosis; HPLC; Tuberlin; Tuberous sclerosis complex
SDGs
Other Subjects
tuberin; adult; article; case report; denaturing high performance liquid chromatography; female; fetus; fetus echography; follow up; gene mutation; gene sequence; gestation period; heart cancer; heart ventricle septum; human; mutational analysis; nonsense mutation; nuclear magnetic resonance imaging; perinatal period; polymerase chain reaction; prenatal diagnosis; rhabdomyoma; sequence analysis; tuberous sclerosis
Publisher
Scientific Communications International Ltd
Type
journal article