A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity

BMC Medical Genetics

Wasim Ahmad²  Sulman Jaffar¹  Muhammad Nasim Khan⁴  Mazhar Mustafa Memon²  Muhammad Touseef⁴  Syed Irfan Raza³  Hina Mir² 

[1] Shifa College of Medicine, Shifa International Hospital, Sector H-8/4, Islamabad, Pakistan;Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan;Army Medical College, National University of Science & Technology NUST), Islamabad, Pakistan;Department of Zoology, University of Azad Jammu and Kashmir, Muzafarabad, Pakistan

关键词: Non-sense mutation;    ELOVL4;    Phenotypic variability;    Ichthyosis;   

Others  :  1122511
DOI  :  10.1186/1471-2350-15-25

 received in 2012-12-25, accepted in 2014-02-18,  发布年份 2014

【 摘 要 】

Background

A rare neuro-ichthyotic disorder characterized by ichthyosis, spastic quadriplegia and intellectual disability and caused by recessive mutations in ELOVL4, encoding elongase-4 protein has recently been described. The objective of the study was to search for sequence variants in the gene ELOVL4 in three affected individuals of a consanguineous Pakistani family exhibiting features of neuro-ichthyotic disorder.

Methods

Linkage in the family was searched by genotyping microsatellite markers linked to the gene ELOVL4, mapped at chromosome 6p14.1. Exons and splice junction sites of the gene ELOVL4 were polymerase chain reaction amplified and sequenced in an automated DNA sequencer.

Results

DNA sequence analysis revealed a novel homozygous nonsense mutation (c.78C > G; p.Tyr26*).

Conclusions

Our report further confirms the recently described ELOVL4-related neuro-ichthyosis and shows that the neurological phenotype can be absent in some individuals.

【 授权许可】

   
2014 Mir et al.; licensee BioMed Central Ltd.

【 图 表 】

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