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Objective <p>To perform genetic diagnosis and pedigree analysis in a case of autosomal dominant Familial Behçet-like Autoinflammatory Syndrome type 3 (AIFBL3) caused by a novel <i>RELA</i> variant.</p> Methods <p>Peripheral blood samples collected from the proband and parents underwent conventional genetic screening, next-generation sequencing (NGS), and Sanger sequencing for familial validation.</p> Results <p>A <i>de novo</i> heterozygous <i>RELA variant</i> (NM_021975.4:c.539&#xa0;C &gt; T, p.Ser180Phe) was identified in the proband. Parental testing confirmed its <i>de novo</i> origin.</p> Conclusion <p>The <i>RELA</i> c.539&#xa0;C &gt; T variant was classified as likely pathogenic for AIFBL3, providing a basis for genetic counseling. In future pregnancies, prenatal diagnosis through targeted familial mutation analysis could be offered to this family to inform reproductive decision-making.</p>

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Genetic Diagnosis and Identification of a Novel De Novo RELA Variant in Familial Behçet-like Autoinflammatory Syndrome Type 3: A Case Report

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年5月19日

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  • Ting Zhang,
  • Zhou Zhou,
  • Weimiao Li,
  • Yongkang Chen,
  • Hai Tang,
  • Dongmei Zhou

摘要

Objective

To perform genetic diagnosis and pedigree analysis in a case of autosomal dominant Familial Behçet-like Autoinflammatory Syndrome type 3 (AIFBL3) caused by a novel RELA variant.

Methods

Peripheral blood samples collected from the proband and parents underwent conventional genetic screening, next-generation sequencing (NGS), and Sanger sequencing for familial validation.

Results

A de novo heterozygous RELA variant (NM_021975.4:c.539 C > T, p.Ser180Phe) was identified in the proband. Parental testing confirmed its de novo origin.

Conclusion

The RELA c.539 C > T variant was classified as likely pathogenic for AIFBL3, providing a basis for genetic counseling. In future pregnancies, prenatal diagnosis through targeted familial mutation analysis could be offered to this family to inform reproductive decision-making.