Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis: genes and variants

Genes linked to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis

• FGFR2: Fibroblast growth factor receptor 2

  Its fibroblast-growth-factor signaling regulates proliferation, differentiation, and developmental patterning across multiple tissues. Germline activating variants cause several craniosynostosis syndromes, while somatic mutations, amplification, or fusions can drive cancer.

  5 disease-causing and 29 uncertain variants in FGFR2 are linked to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.

• POR: NADPH--cytochrome P450 reductase

  It transfers electrons from NADPH to microsomal cytochrome P450 enzymes, making it essential for steroid synthesis and metabolism of many drugs and xenobiotics. Biallelic pathogenic variants cause P450 oxidoreductase deficiency, with disordered steroidogenesis and skeletal abnormalities.

  1 disease-causing and 7 uncertain variants in POR are linked to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis.

Where Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis variants cluster

• FGFR2 Ig-like C2-type 3 (positions 256–358): 3 of 5 disease-causing changes, 4.8× more than its size predicts.

Known disease-causing variants in Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis

Same protein, different disease

• FGFR2-related craniosynostosis is also caused by FGFR2 variants; they fall mostly in different places as the Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis variants (54 disease-causing).
• Crouzon syndrome is also caused by FGFR2 variants; they fall mostly in different places as the Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis variants (22 disease-causing).
• Pfeiffer syndrome is also caused by FGFR2 variants; they fall partly in the same places as the Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis variants (13 disease-causing).
• Acrocephalosyndactyly type I is also caused by FGFR2 variants; they fall mostly in different places as the Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis variants (6 disease-causing).
• Common craniosynostosis syndromes is also caused by FGFR2 variants; they fall in the same places as the Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis variants (5 disease-causing).
• Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis is also caused by POR variants; they fall mostly in different places as the Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis variants (7 disease-causing).
• Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is also caused by POR variants; they fall mostly in different places as the Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis variants (7 disease-causing).

Diseases related to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis

• FGFR2-related craniosynostosis, also linked to FGFR2
• Congenital adrenal hyperplasia, also linked to POR
• Pfeiffer syndrome, also linked to FGFR2
• Differences in sex development, also linked to POR
• Crouzon syndrome, also linked to FGFR2
• Colorectal cancer, also linked to FGFR2
• Gastric cancer, also linked to FGFR2
• Bilateral sensorineural hearing impairment, also linked to FGFR2
• Jackson-Weiss syndrome, also linked to FGFR2
• Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, also linked to POR
• Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, also linked to POR
• Common craniosynostosis syndromes, also linked to FGFR2

Frequently asked questions

Which genes are linked to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis?

In CATVariant, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis is linked to 2 analyzed proteins: FGFR2 (Fibroblast growth factor receptor 2) and POR (NADPH--cytochrome P450 reductase).

How many genetic variants are linked to Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis?

45 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 36 are of uncertain significance or have conflicting reports.

Which uncertain variants in Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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