Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia

Steroids
Zhuo HuangXue-Fan Gu

Abstract

Congenital lipoid adrenal hyperplasia (CLAH) is a rare autosomal recessive disorder caused by defective synthesis of all steroids. This disorder is characterized by 46,XY sex reversal, skin hyperpigmentation, early-onset adrenal crisis and enlarged adrenal with fatty accumulation. CLAH is caused by mutations in the STAR gene. The clinical features and STAR gene mutation spectrum of a large cohort of Chinese patients with CLAH were not reported previously. We performed clinical retrospective review and genetic analysis of the STAR gene in ten unrelated Chinese phenotypic female patients who were clinically diagnosed with CLAH and followed up in our hospital from 2006 to 2015. All ten patients, including two 46,XY females and eight 46,XX females, presented skin hyperpigmentation and early salt-wasting episode, and showed normal growth and development after steroid replacement treatment. Totally 20 mutant alleles containing 11 different STAR gene mutations were identified in these ten patients, including five novel variants (two missense and three null variants), all predicted to be pathogenic in bioinformatics analysis, and six mutations described in previous literature. Among these 11 mutations, a reported mutation c.772C>T and ...Continue Reading

References

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Citations

May 27, 2017·European Journal of Endocrinology·Naoko AmanoTomonobu Hasegawa
May 30, 2019·Journal of Pediatric Endocrinology & Metabolism : JPEM·Melati WijayaGuo Song
Nov 24, 2020·The Journal of Steroid Biochemistry and Molecular Biology·Tingting ZhangWenli Lu

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