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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Expression pattern, genomic structure and evaluation of the human SLC30A4 gene as a candidate for acrodermatitis

S Küry1, M C Devilder, H Avet-Loiseau

  • 1Institut de Biologie de l'Hôtel-Dieu, INSERM U 463, Centre Hospitalier Universitaire, 44035 Nantes Cedex, France. skury@nantes.inserm.fr

Human Genetics
|August 21, 2001
PubMed

Insights

The solute carrier family 30 member 4 (SLC30A4) gene was investigated as a potential cause of acrodermatitis enteropathica. Mutational analysis excluded SLC30A4 involvement in patients with this zinc deficiency disorder.

Area of Science:

  • Genetics
  • Molecular Biology
  • Human Physiology

Background:

  • Solute carrier family 30 member 4 (Slc30a4) is a mammalian protein family involved in zinc transport.
  • The murine Slc30a4 gene is linked to a zinc deficiency phenotype (lethal milk or lm).
  • Human SLC30A4 shares high homology with murine Slc30a4, and acrodermatitis enteropathica (AE) presents similar clinical features to lm.

Purpose of the Study:

  • To investigate the role of the human SLC30A4 gene in acrodermatitis enteropathica (AE).
  • To determine the genomic structure and chromosomal localization of human SLC30A4.
  • To perform mutational analysis of SLC30A4 in AE patients.

Main Methods:

  • Genomic DNA extraction from ten families with AE.
  • PCR amplification and sequencing of all SLC30A4 exons and flanking intronic regions.
  • Analysis of SLC30A4 gene structure and localization on chromosome 15q15-q21.

Main Results:

  • The genomic structure of human SLC30A4 was detailed.
  • The human SLC30A4 gene was localized to chromosome 15q15-q21.
  • No disease-causing mutations in SLC30A4 were identified in the ten families with AE.

Conclusions:

  • The human SLC30A4 gene is not responsible for acrodermatitis enteropathica in the studied patient cohort.
  • Further research is needed to identify the genetic cause of AE.
  • The study provides a comprehensive analysis of the SLC30A4 gene structure and its exclusion in AE.

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