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LIPN – Autosomal Recessive Congenital Ichthyosis

Recent multi‐patient studies screening for autosomal recessive congenital ichthyosis (ARCI) have included LIPN (HGNC:23452) among other established ARCI genes (PMID:33786896; PMID:23621129). Although the overall proportion of LIPN mutations is low (approximately 2% in one cohort and 5% in another), its recurrent identification across distinct populations supports a limited association with ARCI. Segregation analyses in these cohorts, while not extensive, suggest that when LIPN variants are present they co‐segregate with the disease phenotype within affected families.

Despite the current lack of a detailed variant list specific to LIPN – with screening panels rather than individual mutation reports being emphasized – the genetic evidence remains suggestive that rare pathogenic variants in LIPN contribute to the heterogeneous genetic spectrum of ARCI. Functional studies remain sparse for LIPN; existing experimental assessments provide only indirect support for its role in epidermal differentiation and skin cornification, highlighting an area in need of further investigation.

This synthesis, integrating genetic screening data with the limited functional evidence, supports the clinical utility of including LIPN in ARCI diagnostic panels while also underlining the need for additional studies to firmly validate its pathogenic role.

References

  • Experimental Dermatology • 2021 • Molecular epidemiology of non-syndromic autosomal recessive congenital ichthyosis in a Middle-Eastern population PMID:33786896
  • Clinical and Experimental Dermatology • 2013 • Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population PMID:23621129
  • Pediatric Dermatology • 2022 • Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India PMID:35412663

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

LIPN variants have been identified in ARCI cohorts at low frequency (approximately 2% in one study (PMID:33786896) and 5% in another (PMID:23621129)), with only modest segregation evidence.

Genetic Evidence

Limited

While multiple ARCI cohorts have included LIPN in their gene panels, the absence of detailed, gene‐specific pathogenic variants and the relatively low number of affected probands restrict the genetic evidence to a limited level.

Functional Evidence

Limited

Functional assessments for LIPN remain sparse, with only indirect evidence from experimental studies supporting its role in epidermal differentiation and skin cornification.