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HPGD – Isolated Congenital Digital Clubbing

HPGD has been associated with isolated congenital digital clubbing in an autosomal recessive manner. A genome-wide linkage study in a consanguineous Pakistani family identified linkage to chromosome 4q32.3-q34.1, with a maximum multipoint LOD score of 3.62 in 11 affected individuals. Sequencing of HPGD revealed a homozygous missense variant c.577T>C (p.Ser193Pro) that segregated fully with disease (PMID:18805827). No additional families or functional assays have been reported to date. The evidence supports a limited level of clinical validity for HPGD in isolated digital clubbing. Key take-home: consider HPGD c.577T>C (p.Ser193Pro) in genetic testing for autosomal recessive isolated congenital digital clubbing.

References

  • Journal of medical genetics • 2009 • Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC). PMID:18805827

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

Single consanguineous family with 11 affected individuals and LOD 3.62 (PMID:18805827)

Genetic Evidence

Limited

Homozygous missense variant c.577T>C identified in 11 affected family members with complete segregation

Functional Evidence

Limited

No functional studies reported to date