A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis.
- Author:
Liyun ZHANG
1
;
Bei XU
;
Yanfang ZHONG
;
Xiaofei CHEN
;
Hui ZHENG
;
Weiying JIANG
;
Hongyi LI
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Albinism, Oculocutaneous; diagnosis; genetics; Base Sequence; Child, Preschool; Exons; Female; Genetic Linkage; Haplotypes; Humans; Membrane Transport Proteins; genetics; Mutation; Pedigree; Polymorphism, Single Nucleotide; Pregnancy; Prenatal Diagnosis
- From: Chinese Journal of Medical Genetics 2013;30(3):318-321
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo determine the genotype of a family affected with oculocutaneous albinism (OCA) and to provide genetic counseling and prenatal diagnosis.
METHODSTo determine the genotypes and mutational sites through PCR and sequencing for all exons and exon-intron junctions of 4 OCA genes in the proband and the P gene of her parents. Prenatal genotyping of the fetus was carried out using amniocentesis sample.
RESULTSThe patient was diagnosed with OCA2 based on a genotype of c.1327G>A/c.2360C>T. Her father was heterozygous for c.2360C> T, whilst her mother has none of the two mutations. c.1327G>A is therefore a maternal de novo mutation. Neither of the mutations was found in the fetus.
CONCLUSIONA maternally inherited de novo mutation c.1327G>A has been identified in the patient. In order to detect de novo mutations, full sequence analysis is necessary.
