Asset Details
Do you wish to reserve the book?
Long‐Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree
Hey, we have placed the reservation for you!
By the way, why not check out events that you can attend while you pick your title.
Oops! Something went wrong.
Looks like we were not able to place the reservation. Kindly try again later.
Are you sure you want to remove the book from the shelf?
Long‐Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree
Do you wish to request the book?
Long‐Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree
Please be aware that the book you have requested cannot be checked out. If you would like to checkout this book, you can reserve another copy
We have requested the book for you!
Your request is successful and it will be processed during the Library working hours. Please check the status of your request in My Requests.
Oops! Something went wrong.
Looks like we were not able to place your request. Kindly try again later.
Journal Article
Long‐Read Sequencing Identifying the Genetic Complexity of Congenital Adrenal Hyperplasia in the Pedigree
2024
Overview
Background High 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. Methods Deletions, duplications, and recombination breakpoints were precisely identified by long‐read sequencing (LRS). Results This 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. Conclusions LRS 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. Long‐read sequencing (LRS) based on the long‐rang PCR identified the genetic complexities such as the deletion chimeras and duplicated CYP21A2 in congenital adrenal hyperplasia, enabling the precise diagnosis for the family pedigree.
Publisher
John Wiley & Sons, Inc,Wiley
Subject
/ Adrenal Hyperplasia, Congenital - diagnosis
/ Adrenal Hyperplasia, Congenital - genetics
/ Alleles
/ congenital adrenal hyperplasia
/ Female
/ Females
/ Fetuses
/ Genes
/ Genomics
/ Homology
/ Humans
/ Kinases
/ Male
/ Mutation
/ Pedigree
/ Prenatal Diagnosis - methods
/ Sequence Analysis, DNA - methods
