Evidence map›Paper›PMID 39575462›Full record

ArticleMolecular genetics & genomic medicine2024

Long-Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree.

Ximin Chen, Jing Zhao, Danhua Li, Na Xi, Danying Yi, Mengjia Yan, Yan Yin, Xueyan Wang

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Article in Molecular genetics & genomic medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

8 authors.

Ximin ChenDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Women's and Children's Hospital, the Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, Sichuan, China.
Jing ZhaoDepartment of Ultrasound, Sichuan Provincial Women's and Children's Hospital, the Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, Sichuan, China.
Danhua LiDepartment of Research and Development, Berry Genomics Corporation, Beijing, China.ORCID https://orcid.org/0000-0001-8521-2851
Na XiDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Women's and Children's Hospital, the Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, Sichuan, China.
Danying YiDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Women's and Children's Hospital, the Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, Sichuan, China.ORCID https://orcid.org/0000-0002-2388-561X
Mengjia YanDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Women's and Children's Hospital, the Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, Sichuan, China.
Yan YinDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Women's and Children's Hospital, the Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, Sichuan, China.
Xueyan WangDepartment of Medical Genetics and Prenatal Diagnosis, Sichuan Provincial Women's and Children's Hospital, the Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, Sichuan, China.

Funding

The medical research project of the Chengdu Health Commission 202321
6 · The paper itself

Abstract

backgroundHigh sequence homology between CYP21A2 and CYP21A1P poses challenges to genetic diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD). Traditional genetic testing is unable to provide an accurate diagnosis due to the genetic complexity of CAH.

methodsDeletions, duplications, and recombination breakpoints were precisely identified by long-read sequencing (LRS).

resultsThis study presented a pregnant woman, a 21-OHD carrier detected by MLPA, and her husband, a normal subject also detected by MLPA. The fetus was suspected of having 21-OHD based on clinical presentations such as enlarged adrenal glands, atypical external genitalia and karyotyping of 46, XX. LRS further identified the fetus as having the most severe salt-wasting (SW) form of 21-OHD with a compound heterozygote genotype. One allele was TNXA/TNXB CH-2, while the other allele was CYP21A1P/CYP21A2 CH-8. LRS precisely determined the genotypes of the fetus's father and grandmother with duplications, which misdiagnosed by MLPA. The multidisciplinary team recommended immediate glucocorticoid and mineralocorticoid treatment for the child after birth to prevent life-threatening adrenal crisis.

conclusionsLRS provides precise diagnosis for family members with CYP21A2 deletion or duplication, improving disease management and preventing potential adrenal crises. When used in pre-pregnancy genetic testing, LRS can indicate high genetic risk and guide the appropriate therapy during pregnancy and immediately after birth.

Indexed as

Adrenal Hyperplasia, CongenitalPedigreeSteroid 21-HydroxylaseFemaleGenetic TestingHumansMalePregnancyPrenatal DiagnosisSequence Analysis, DNACYP21A2 protein, humanSteroid 21-Hydroxylasecompound heterozygotecongenital adrenal hyperplasialong‐read sequencingprenatal diagnosis

Identifiers

PMID39575462
PMCPMC11582476

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