Evidence map›Paper›PMID 33124154›Full record

ArticleJournal of clinical laboratory analysis2021

Genetic analysis and prenatal diagnosis of 20 Chinese families with oculocutaneous albinism.

Chenyang Xu, Yanbao Xiang, Huanzheng Li, Yunzhi Xu, Yijian Mao, Lili Zhou, Xueqin Xu, Shaohua Tang

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical laboratory analysis, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Chenyang XuKey Laboratory of Birth Defects, Department of Genetics, Wenzhou Central Hospital, Wenzhou, China.
Yanbao XiangKey Laboratory of Birth Defects, Department of Genetics, Wenzhou Central Hospital, Wenzhou, China.
Huanzheng LiKey Laboratory of Birth Defects, Department of Genetics, Wenzhou Central Hospital, Wenzhou, China.
Yunzhi XuKey Laboratory of Birth Defects, Department of Genetics, Wenzhou Central Hospital, Wenzhou, China.
Yijian MaoKey Laboratory of Birth Defects, Department of Genetics, Wenzhou Central Hospital, Wenzhou, China.
Lili ZhouKey Laboratory of Birth Defects, Department of Genetics, Wenzhou Central Hospital, Wenzhou, China.
Xueqin XuKey Laboratory of Birth Defects, Department of Genetics, Wenzhou Central Hospital, Wenzhou, China.
Shaohua TangKey Laboratory of Birth Defects, Department of Genetics, Wenzhou Central Hospital, Wenzhou, China.ORCID https://orcid.org/0000-0002-2918-8532

Funding

Medical and Health Science and Technology Project of Zhejiang Province support plan 2020KY921Science and Technology Planning Project of Wenzhou ZS2017004.
6 · The paper itself

Abstract

backgroundOculocutaneous albinism (OCA) is a group of heterogeneous genetic disorders characterized by abnormal melanin synthesis in the hair, skin, and eyes. OCA exhibits obvious genetic and phenotypic heterogeneity. Molecular diagnosis of causal genes can be of help in the classification of OCA subtypes and the study of OCA pathogenesis．

methodsIn this study, Sanger sequencing and whole exome sequencing were used to genetically diagnose 20 nonconsanguineous Chinese OCA patients. In addition, prenatal diagnosis was provided to six OCA families.

resultsVariants of TYR, OCA2, and HPS1 were detected in 85%, 10%, and 5% of affected patients, respectively. A total of 21 distinct variants of these three genes were identified. Exons 1 and 2 were the hotspot regions of the TYR variants, and c.895C > A and c.896G > A were the hotspot variants. We also found seven novel variants: c.731G > A, c.741C > A, c.867C > A, and c.1037-2A > T in TYR, c.695dupT and c.1054A > G in OCA2, and c.9C > A in HPS1. Genetic tests on six fetuses revealed three carrier fetuses, two normal fetuses, and one affected fetus. The follow-up results after birth were consistent with the results of prenatal diagnosis (one fetus terminated during pregnancy was not followed up).

conclusionsThis study expands our understanding of the genotypic spectrum of the Chinese OCA population. The findings indicate that prenatal diagnosis can provide important information for genetic counseling.

Indexed as

AdolescentAdultAlbinism, OculocutaneousAmniocentesisAsian PeopleChildExome SequencingFemaleGenetic CounselingHumansInfant, NewbornMaleMembrane ProteinsMembrane Transport ProteinsMiddle AgedMonophenol MonooxygenaseHPS1 protein, humanMembrane ProteinsMembrane Transport ProteinsMonophenol MonooxygenaseOCA2 protein, humanHPS1OCAprenatal diagnosisTYRwhole exome sequencing

Identifiers

PMID33124154
PMCPMC7891544

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