Genetic screening in the Persian Jewish community: A pilot study

Genet Med. 2010 Oct;12(10):628-33. doi: 10.1097/GIM.0b013e3181edef5b.


Purpose: Israeli investigators have identified several relatively frequent disorders due to founder point mutations in Persian (Iranian) Jews, who, for nearly three centuries up to the Islamic Revolution of 1979, were completely isolated reproductively.

Methods: Using a community-based model previously employed with Tay-Sachs disease prevention, we developed a pilot program for the Persian Jewish community of greater Los Angeles. We screened for mutations responsible for four relatively frequent autosomal recessive conditions in Persian Jews in which effective interventions are available for each: Pseudocholinesterase deficiency (butyryl cholinesterase deficiency); Congenital hypoaldosteronism (corticosterone methyl oxidase II); Autoimmune polyendocrinopathy (autoimmune regulatory element); and Hereditary Inclusion Body myopathy.

Results: One thousand individuals volunteered. Mutations were assessed in saliva-derived DNA and were positive for 121/1000 butyryl cholinesterase deficiency; 92/1000 Hereditary Inclusion Body myopathy; 38/1000 corticosterone methyl oxidase II; and 37/1000 autoimmune regulatory element. Ten homozygous individuals (9 butyryl cholinesterase deficiency and 1 Hereditary Inclusion Body myopathy) and 10 "at-risk" couples (seven for butyryl cholinesterase deficiency and one each for the other three disorders) were identified. These frequencies are comparable with those in Israel and indicate an extraordinary level of inbreeding, as anticipated.

Conclusions: A carefully planned effort can be delivered to an "increased risk" community if detailed attention is given to planning and organization. However, availability of an effective intervention for those found to be "at-risk" or possibly affected, is essential before embarking.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Apnea
  • Butyrylcholinesterase / deficiency
  • Cholinesterases / deficiency
  • Cholinesterases / genetics
  • Consanguinity
  • Drug Hypersensitivity / diagnosis
  • Drug Hypersensitivity / genetics
  • Drug Hypersensitivity / prevention & control
  • Ethnic Groups / genetics
  • Gene Frequency
  • Genetic Carrier Screening
  • Genetic Counseling
  • Genetic Predisposition to Disease*
  • Genetic Testing*
  • Humans
  • Hypoaldosteronism / diagnosis
  • Hypoaldosteronism / genetics*
  • Hypoaldosteronism / prevention & control
  • Iran / ethnology
  • Jews / ethnology
  • Jews / genetics*
  • Los Angeles
  • Metabolism, Inborn Errors
  • Mutation
  • Myositis, Inclusion Body / congenital
  • Myositis, Inclusion Body / diagnosis
  • Myositis, Inclusion Body / genetics
  • Myositis, Inclusion Body / prevention & control
  • Point Mutation
  • Polyendocrinopathies, Autoimmune / diagnosis
  • Polyendocrinopathies, Autoimmune / genetics*
  • Polyendocrinopathies, Autoimmune / prevention & control
  • Prenatal Diagnosis
  • Risk Assessment
  • United States


  • Butyrylcholinesterase
  • Cholinesterases

Supplementary concepts

  • Butyrylcholinesterase deficiency
  • Inclusion body myopathy autosomal recessive