[Genetic testing and prenatal diagnosis for thirteen Chinese pedigrees affected with oculocutaneous albinism].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(2): 143-147, 2022 Feb 10.
Article
em Zh
| MEDLINE
| ID: mdl-35076908
ABSTRACT
OBJECTIVE:
To identify the causative variants in 13 Chinese pedigrees affected with oculocutaneous albinism (OCA) so as to provide genetic counseling and prenatal diagnosis to them.METHODS:
Thirteen unrelated pedigrees with clinically diagnosed OCA were collected and classified based on the manifestation of skin and eyes. With informed consent obtained from the participants, peripheral blood samples were collected from the probands and their family members for the extraction of genomic DNA. Candidate variants were screened by targeted capture and next generation sequencing, and the results were validated by Sanger sequencing. Prenatal diagnosis was provided to the families upon their subsequent pregnancies.RESULTS:
Causative variants were detected in all probands, including 10 with compound heterozygotes or homozygotes for TYR gene variants and 3 with compound heterozygotes for OCA2 gene variants. Among these, two variants [TYR c.650G>C (p.Arg217Pro) and OCA2 c.516-2A>T] were unreported previously. The pathogenicity of the novel TYR c.650G>C (p.Arg217Pro) variant was verified through bioinformatic analysis and prediction of three dimensional structure of the protein. Prenatal diagnosis was provided to 6 fetuses with a high risk for OCA. Four fetuses were found to be carriers, one did not carry the variants of the proband, and one was affected with OCA.CONCLUSION:
Identification of the pathogenic variants in the 13 probands, including 2 novel ones, has expanded the mutational spectrum of OCA and enabled genetic counseling and prenatal diagnosis for the families.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas de Membrana Transportadoras
/
Albinismo Oculocutâneo
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Pregnancy
País como assunto:
Asia
Idioma:
Zh
Ano de publicação:
2022
Tipo de documento:
Article