title: [HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL].
abstract: BACKGROUND
  Meckel-Gruber syndrome (MKS) is a lethal rare inherited autosomal recessive disease. The syndrome is characterized by multiple congenital anomalies including polycystic kidneys, occipital encephalocele and polydactyly. The presence of two out of these anomalies is sufficient for a definitive diagnosis. At least 11 genes have been reported to-date to underlie MKS.
  
  
  METHODS
  In the current study we have retrospectively analyzed all the families at the Ha'Emek Medical Center in which the diagnosis of MKS was determined.
  
  
  RESULTS
  In total, 17 affected individuals are reported, originating from 12 sibships. The diagnoses were conducted or suspected by prenatal sonography, and some of the newborns were examined. Polycystic kidneys were present in 94% of cases, occipital encephalocele in 82% and polydactyly in about half of all cases. The underlying genetic cause was identified in 11 of our families, comprising mutations in 7 different genes, revealing high genetic heterogeneity.
  
  
  CONCLUSIONS
  The identification of the genetic basis of MKS in our region allows focused and data-based genetic counseling and serves as an important tool for reproductive decisions, including the prevention of recurrence of pregnancies affected with this lethal syndrome. In the near future we plan to study the prevalence of the different MKS mutations found in each community in order to consider the expansion of national genetic screening in high risk populations.
authors.forename: Ula
authors.initials: U
authors.lastname: Aalimi
authors.forename: Etty
authors.initials: E
authors.lastname: Spiegel
authors.forename: Ilana
authors.initials: I
authors.lastname: Chervinsky
authors.forename: Tania
authors.initials: T
authors.lastname: Attie-Bitach
authors.forename: Nadia
authors.initials: N
authors.lastname: Elkhartoufi
authors.forename: Sophie
authors.initials: S
authors.lastname: Saunier
authors.forename: Michel
authors.initials: M
authors.lastname: Vekemans
authors.forename: Ulfat
authors.initials: U
authors.lastname: Abulil-Zuabi
authors.forename: Moshe
authors.initials: M
authors.lastname: Chemke
authors.forename: Ronen
authors.initials: R
authors.lastname: Spiegel
authors.forename: Stavit
authors.initials: S
authors.lastname: Salev
mesh_terms: D018912:Arabs / Q000235:genetics*; D002925:Ciliary Motility Disorders / Q000453:epidemiology* / Q000235:genetics / Q000503:physiopathology; D004677:Encephalocele / Q000453:epidemiology* / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D007557:Israel / Q000453:epidemiology; D008297:Male; D009154:Mutation; D007690:Polycystic Kidney Diseases / Q000453:epidemiology* / Q000235:genetics / Q000503:physiopathology; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D012174:Retinitis Pigmentosa; D012189:Retrospective Studies