Early diagnosis of a newborn with tuberous sclerosis caused by a genetic mutation.

ABSTRACT:

Objective

Tuberous sclerosis (TSC) is an autosomal dominant disorder, often detected during childhood. We present the results of genetic testing in a newborn with suspected TSC.

Methods

A newborn with no specific clinical manifestations of TSC showed evidence of TSC on magnetic resonance imaging and echocardiography. Next-generation sequencing (NGS) and multiple ligation-dependent probe amplification (MLPA) of the TSC1 and TSC2 gene exons were carried out to confirm the diagnosis.

Results

The results of MLPA were negative, but NGS showed a heterozygous mutation in the TSC1 gene comprising insertion of a T residue at c.2165 (exon 17) to c.2166 (exon 17), indicating a loss of function mutation. These results were verified by Sanger sequencing. This

SUBMITTER: Qiao L 

PROVIDER: S-EPMC8404652 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature