title: Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry.
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.
authors.affiliation: HIBM Research Group, Los Angeles, California, USA. yadira@hibm.org
authors.forename: Yadira
authors.initials: Y
authors.lastname: Valles-Ayoub
authors.forename: Saghi
authors.initials: S
authors.lastname: Esfandiarifard
authors.forename: Daniel
authors.initials: D
authors.lastname: No
authors.forename: Pedram
authors.initials: P
authors.lastname: Sinai
authors.forename: Zeshan
authors.initials: Z
authors.lastname: Khokher
authors.forename: Melody
authors.initials: M
authors.lastname: Kohan
authors.forename: Tanaz
authors.initials: T
authors.lastname: Kahen
authors.forename: Daniel
authors.initials: D
authors.lastname: Darvish
mesh_terms: D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D007413:Intestinal Mucosa / Q000378:metabolism; D007422:Intestines / Q000473:pathology; D007492:Iran / Q000208:ethnology; D007585:Jews / Q000235:genetics*; D008099:Liver / Q000378:metabolism / Q000473:pathology; D015141:Los Angeles; D017422:Sequence Analysis, DNA; D013154:Spleen / Q000378:metabolism / Q000473:pathology; D015223:Wolman Disease / Q000235:genetics*