title: 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.
  
  
  METHODS
  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.
authors.affiliation: The 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.
authors.forename: Huijun
authors.initials: H
authors.lastname: Wang
authors.affiliation: The 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. szhqianyanyan@163.com.
authors.forename: Yanyan
authors.initials: Y
authors.lastname: Qian
authors.affiliation: The 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. bingbingwu2010@163.com.
authors.forename: Bingbing
authors.initials: B
authors.lastname: Wu
authors.affiliation: The 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. 15121101375@163.com.
authors.forename: Ping
authors.initials: P
authors.lastname: Zhang
authors.affiliation: The 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. zwhchfu@126.com.
authors.forename: Wenhao
authors.initials: W
authors.lastname: Zhou
mesh_terms: D019943:Amino Acid Substitution; D004827:Epilepsy / Q000235:genetics; D005091:Exons; D005123:Eye / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D054000:Nevus, Sebaceous of Jadassohn / Q000235:genetics* / Q000473:pathology; D016283:Proto-Oncogene Proteins p21(ras) / Q000235:genetics*; D012867:Skin / Q000473:pathology
chemical_list: C117307:KRAS protein, human; D016283:Proto-Oncogene Proteins p21(ras)