Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry

Genet Test Mol Biomarkers. 2011 Jun;15(6):395-8. doi: 10.1089/gtmb.2010.0203. Epub 2011 Feb 3.

Abstract

Wolman disease (WD) is a rare inherited condition caused by lysosomal acid lipase (LAL) deficiency first described in Iranian-Jewish (IJ) children. Newborns with WD are healthy and active, but soon the infant develops symptoms of severe malnutrition in the first few months of life, and often dies before the age of 1 year. Harmful amounts of lipids accumulate in the spleen, liver, bone marrow, intestine, adrenal glands, and lymph nodes. Although worldwide incidence is estimated at 1/350,000 newborns, WD occurs at higher than expected frequency in the IJ community of the Los Angeles area. As a validation study, we analyzed 162 DNA specimens of IJ origin by automated sequencing. For LIPA p.G87V (ggc>gtc, alternative numbering p.G66V), a heterozygous frequency of 5/162 (3.086%) was discovered. Thus, we estimate that as high as 1 in 4200 newborns of IJ couples may be at risk. Additional studies are required to confirm and further validate the higher frequencies seen in our sample pool, and to determine if people of IJ and even possibly Middle Eastern descent are at a higher risk for WD.

Publication types

  • Research Support, Non-U.S. Gov't
  • Validation Study

MeSH terms

  • Genotype*
  • Humans
  • Infant, Newborn
  • Intestinal Mucosa / metabolism
  • Intestines / pathology
  • Iran / ethnology
  • Jews / genetics*
  • Liver / metabolism
  • Liver / pathology
  • Los Angeles
  • Sequence Analysis, DNA
  • Spleen / metabolism
  • Spleen / pathology
  • Wolman Disease / genetics*