Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.

[harlequin ichthyosis]

A Mutations in the gene encoding the ABCA 12 protein are associated with different subtypes of autosomal recessive congenital ichthyosis (ARCI ), including Harlequin ichthyosis (HI ), lamellar ichthyosis (LI ) and non-bullous congenital ichthyosiform erythroderma (NCIE ). Disruption of ABCA 12 lead to perturbed lipid transport in lamellar granules and a defective intercellular lipid layer of the stratum corneum . We have identified a large consanguineous Pakistani family affected by NCIE . Autozygosity mapping showed that affected individuals are homozygous for the ABCA 12 gene region . Subsequent mutation screening revealed a homozygous c .4676 G >T transition in all five affected family members . The mutation results in a novel p .G 1559 V substitution within the first nucleotide binding domain of ABCA 12 . The combined results support that an ABCA 12 missense mutation , despite its location in a functional domain , may be associated with a mild ichthyosis phenotype . Furthermore , our findings increase the mutational spectrum in ABCA 12 associated with ARCI of diagnostic and prognostic importance .

Diseases
Validation

Diseases presenting "ichthyosis" symptom

child syndrome

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

harlequin ichthyosis

hirschsprung disease

junctional epidermolysis bullosa

kallmann syndrome

lamellar ichthyosis

This symptom has already been validated