ArticleHuman genomics2026
Multigenerational evidence of X-linked adrenal hypoplasia congenita due to a novel NR0B1 frameshift.
Article in Human genomics, 2026. 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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Abstract
backgroudPathogenic NR0B1 variants, encoding DAX-1, are a major cause of X-linked adrenal hypoplasia congenita (AHC), yet genotype-phenotype variability persists.
resultsIn 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.
conclusionsThis maternally inherited frameshift underlies AHC in this family, expanding the NR0B1 mutational spectrum and underscoring genetic testing.
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