Mutation analysis of two pedigrees with suspected oculocutaneous albinism / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 212-216, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-775766
ABSTRACT
OBJECTIVE@#To analyze the clinical presentation and gene of 2 pedigrees with suspected oculocutaneous albinism(OCA), and provide basis for clinical classification, genetic counseling and prenatal diagnosis.@*METHODS@#Variants were identified using next-generation sequencing(NGS) and confirmed by Sanger sequencing in 2 pedigrees with suspected OCA. The pathogenicity of the variants was analyzed according to the American College of Medical Genetics and Genomics (ACMG) standard.@*RESULTS@#Two compound heterozygous mutations of TYR and OCA2 genes were identified respectively in 2 pedigrees with suspected OCA. The mutation of c.819+3insATATGCC in TYR and the mutation of c.1870G>C in OCA2 are first reported in this study. The pathogenicity analysis shows that two novel mutations are likely pathogenic by combination of prediction of SIFT, Polyphen-2 and Human Splicing Finder.@*CONCLUSION@#The findings of this study expand the mutational spectrum of OCA. Compound heterozygous mutations in the TYR and OCA2 gene may be responsible for clinical manifestations of 2 pedigrees with suspected OCA.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Membrane Transport Proteins
/
DNA Mutational Analysis
/
Albinism, Oculocutaneous
/
Monophenol Monooxygenase
/
High-Throughput Nucleotide Sequencing
/
Mutation
Type of study:
Prognostic study
Limits:
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
Similar
MEDLINE
...
LILACS
LIS