ALOX12B P127S - GET-Evidence

Curation:
Currentness:

ALOX12B P127S

(ALOX12B Pro127Ser)


Short summary

This variant was found heterozygously in autosomal recessive congenital ichthyosis in two Turkish siblings, although the second mutation was not found. Later, Lesueur et al. observe that this variant has a 4% frequency in their North African controls and is likely just a rare SNP.

Variant evidence
Computational 1

Gene is associated with disease.

See unpublished research (below).

Functional

See unpublished research (below).

Case/Control

See unpublished research (below).

Familial

See unpublished research (below).

 
Clinical importance
Severity 3

Moderate effect on quality of life

See unpublished research (below).

Treatability 2

Gene therapy in development

See unpublished research (below).

Penetrance -
 

Impact

Low clinical importance, Uncertain benign

(The "low clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

other

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr17:7984479: 1.7% (180/10758) in EVS
  • A @ chr17:7925203: 0.9% (1/114) in GET-Evidence
  • Frequency shown in summary reports: 1.7% (180/10758)

Publications
 

Eckl KM, Krieg P, Küster W, Traupe H, André F, Wittstruck N, Fürstenberger G, Hennies HC. Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat. 2005 Oct;26(4):351-61. PubMed PMID: 16116617.

This variant was implicated in autosomal recessive congenital ichthyosis, in two Turkish siblings, but the second mutation was not found. The phenotype involved self-healing abdominal scaling.

Lesueur F, Bouadjar B, Lefèvre C, Jobard F, Audebert S, Lakhdar H, Martin L, Tadini G, Karaduman A, Emre S, Saker S, Lathrop M, Fischer J. Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13. J Invest Dermatol. 2007 Apr;127(4):829-34. Epub 2006 Nov 30. PubMed PMID: 17139268.

Lesueur et al. say that this variant is likely a benign SNP; they observe it has a 4% incidence in their controls from North Africa.

Genomes
 

Other external references
 

    dbSNP
  • rs72842957
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the ALOX12B gene
    ALOX12B-Related Autosomal Recessive Congenital Ichthyosis
    Autosomal Recessive Congenital Ichthyosis
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALOX12B
    PolyPhen-2
  • Score: 0.017 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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