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Backgroud <p>Pathogenic <i>NR0B1</i> variants, encoding DAX-1, are a major cause of X-linked adrenal hypoplasia congenita (AHC), yet genotype–phenotype variability persists.</p> Results <p>In a Chinese four-generation pedigree, two affected males carried a novel <i>NR0B1</i> frameshift, c.573_576dup4 (p.T193Gfs*13). Segregation showed wild-type fathers and heterozygous carrier mothers, and unaffected male relatives lacked the variant. The duplication shifts the reading frame from residue 193 and introduces a premature stop at residue 205, truncating DAX-1. Pedigree analysis supports <i>NR0B1</i> c.573_576dup4 (p.T193Gfs*13) as a novel AHC-causing variant.</p> Conclusions <p>This maternally inherited frameshift underlies AHC in this family, expanding the <i>NR0B1</i> mutational spectrum and underscoring genetic testing.</p>

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Multigenerational evidence of X-linked adrenal hypoplasia congenita due to a novel NR0B1 frameshift

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月24日

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  • Lang Tian,
  • Jie Mei,
  • Xi Zheng,
  • Hong-Mei Dai

摘要

Backgroud

Pathogenic NR0B1 variants, encoding DAX-1, are a major cause of X-linked adrenal hypoplasia congenita (AHC), yet genotype–phenotype variability persists.

Results

In a Chinese four-generation pedigree, two affected males carried a novel NR0B1 frameshift, c.573_576dup4 (p.T193Gfs*13). Segregation showed wild-type fathers and heterozygous carrier mothers, and unaffected male relatives lacked the variant. The duplication shifts the reading frame from residue 193 and introduces a premature stop at residue 205, truncating DAX-1. Pedigree analysis supports NR0B1 c.573_576dup4 (p.T193Gfs*13) as a novel AHC-causing variant.

Conclusions

This maternally inherited frameshift underlies AHC in this family, expanding the NR0B1 mutational spectrum and underscoring genetic testing.