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

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

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Objective Tuberous sclerosis (TSC) is an autosomal dominant disorder, often detected during childhood.We present the results of genetic testing in a newborn with johnny cash style clothing 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 genetic change was present in the newborn but the parental genotypes were wild-type, indicating a de novo mutation.

Conclusions In this case, a case of TSC caused by a heterozygous mutation in the TSC1 gene was confirmed 3m speedglas 9002nc by NGS sequencing.This indicates the suitability of genetic testing for the early diagnosis of clinically rare and difficult-to-diagnose diseases, to guide clinical treatment.