[Identification of a novel TP53 germline mutation in one child with adrenocortical carcinoma].
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.
Si
Nuo
N
Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100005, China.
Sun
Miao
M
Lu
Chao-xia
CX
Liu
Yan-shan
YS
Qi
Zhan
Z
Yang
Wei
W
Zhao
Xiu-li
XL
Zhang
Xue
X
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