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Updated: Mar 30, 2026
Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant
Huijun Wang1, Yanyan Qian2, Bingbing Wu3
1The Molecular Genetic Diagnosis Center, Shanghai Key Lab of Birth Defects, Translational Medicine Research Center of Children's Development and Disease, Pediatrics Research Institute, Children's Hospital of Fudan University, Shanghai, 201102, China. huijunwang@fudan.edu.cn.
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 somatic mosaic mutation in this patient may have caused her skin and eye lesions and epilepsy. With this correct diagnosis, the infant can be effectively treated.
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