KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant.

ABSTRACT:

Background

Linear nevus sebaceous syndrome (LNSS) is a multisystem disorder that includes nevus sebaceous and central nervous system, ocular and skeletal anomalies. We report the first case of a KRAS G12D mosaic mutation in a patient diagnosed with LNSS.

Case presentation

A 3-month-old female with a clinical diagnosis of LNSS presented with intermittent epilepsy. Her mother carefully collected a skin lesion sample from scratched-off scurf obtained from the patient's nails. DNA was extracted, and long-range PCR was performed to amplify the KRAS gene, which was then analyzed by next-generation sequencing. The results revealed the presence of a low-level heterozygous mutation in the KRAS gene (c.35C>T; p.G12D, 5 %).

Conclusions

These findings suggest that the KRAS somati

SUBMITTER: Wang H 

PROVIDER: S-EPMC4628240 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature