title: [Identification of a novel TP53 germline mutation in one child with adrenocortical carcinoma].
abstract: OBJECTIVE
  To detect the germline TP53 gene mutation in a child with pediatric adrenocortical carcinoma (ADCC) in order to provide genetic diagnosis and counseling.
  
  
  METHODS
  Genomic DNA was extracted from peripheral blood from a girl with ADCC and her parents. All TP53 exons and their flanking intronic sequences were PCR-amplified and subjected to automatic DNA sequencing.
  
  
  RESULTS
  Direct sequencing of PCR products revealed a heterozygous G insertion between nucleotide 522 and 523 (c.522-523insG) in TP53 exon 5. This novel mutation is predicted to result in a frame shift at codon 175, producing a new reading frame ending in a stop at position 6 (p.R175AfsX6). The same heterozygous mutation was also found in her father, but not in her mother.
  
  
  CONCLUSIONS
  A novel germline mutation in the TP53 gene has been identified in one case with pediatric ADCC.
authors: Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100005, China.
authors: Nuo
authors: N
authors: Si
authors: Miao
authors: M
authors: Sun
authors: Chao-xia
authors: CX
authors: Lu
authors: Yan-shan
authors: YS
authors: Liu
authors: Zhan
authors: Z
authors: Qi
authors: Wei
authors: W
authors: Yang
authors: Xiu-li
authors: XL
authors: Zhao
authors: Xue
authors: X
authors: Zhang
mesh_terms: D000306:Adrenal Cortex Neoplasms / Q000235:genetics*; D018268:Adrenocortical Carcinoma / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D016158:Genes, p53; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D010375:Pedigree