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Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11β-hydroxylase deficiency.

Jidong Liu1,2,3, Huihui Tian4, Xinchen Jin4

  • 1Department of Endocrinology and Metabolism, Cheeloo College of Medicine, Qilu Hospital, Shandong University, Jinan, 250012, P.R. China.

BMC Endocrine Disorders
|October 14, 2024
PubMed
Summary

Genetic analysis of 11β-hydroxylase deficiency (11β-OHD) in a Chinese family revealed two CYP11B1 variants. Integrated long-range PCR-based NGS and target long-read sequencing offer accurate diagnosis for 11β-OHD.

Keywords:
11β-hydroxylaseCYP11B1Congenital adrenal hyperplasiaLong-read sequencing

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Area of Science:

  • Genetics
  • Endocrinology
  • Molecular Biology

Background:

  • 11β-hydroxylase deficiency (11β-OHD) is a common cause of congenital adrenal hyperplasia (CAH).
  • Genetic testing for 11β-OHD is challenging due to CYP11B1/CYP11B2 gene similarities and complex structural variants.
  • This study investigates the genetic basis of 11β-OHD in a Chinese family.

Purpose of the Study:

  • To identify the underlying genetic causes of 11β-OHD in two siblings from a Chinese family.
  • To evaluate the efficacy of advanced sequencing techniques for diagnosing 11β-OHD.

Main Methods:

  • Clinical data and peripheral blood samples were collected.
  • Sex steroid concentrations were measured using liquid chromatography-tandem mass spectrometry (LC-MS/MS).
  • Long-range PCR-based next-generation sequencing (NGS) and target long-read sequencing (T-LRS) were employed to detect pathogenic variants in the CYP11B1 gene.

Main Results:

  • Both siblings presented with early-onset hypertension, elevated ACTH, progesterone, and testosterone, alongside decreased cortisol and potassium.
  • NGS identified a heterozygous missense variant (c.281C>T, p.P94L) in CYP11B1.
  • T-LRS detected a novel deletion-insertion variant (c.954+78_980delinsACAG) in trans with the missense variant, confirming the genetic diagnosis.

Conclusions:

  • The combined approach of long-range PCR-based NGS and T-LRS provides a reliable and accurate method for 11β-OHD genetic diagnosis.
  • This integrated strategy is effective for identifying complex CYP11B1 variants and for carrier sequencing in families affected by 11β-OHD.