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Low prevalence of p.G352fsdelG mutation in phenylketonuria patients from Morocco

Afaf Lamzouri1, Ilham Ratbi, Fatima Z Laarabi

  • 1Centre de Génomique Humaine, Faculté de Médecine et Pharmacie, Université Mohammed V Souissi, Rabat, Morocco.

Genetic Testing and Molecular Biomarkers
|July 20, 2012
PubMed
Abstract

Insights

The p.G352fsdelG mutation is not common in Moroccan newborns with phenylketonuria (PKU). This finding impacts genetic counseling and molecular diagnosis for PKU in Morocco.

Area of Science:

  • Genetics
  • Molecular Biology
  • Public Health

Background:

  • Phenylketonuria (PKU) is a genetic disorder.
  • A previous study identified the p.G352fsdelG frameshift mutation in the PAH gene as the most common cause of PKU in Morocco.
  • This finding could simplify genetic diagnosis and counseling for PKU in the region.

Purpose of the Study:

  • To estimate the frequency of heterozygotes for the p.G352fsdelG mutation in Moroccan newborns.
  • To validate the prevalence of this mutation in the Moroccan population.

Main Methods:

  • DNA was extracted from umbilical cord blood of 250 unrelated Moroccan newborns.
  • TaqMan(®) real-time polymerase chain reaction was used to detect the p.G352fsdelG mutation in the PAH gene.

Main Results:

  • The p.G352fsdelG mutation was not detected in any of the 250 tested newborns.
  • The frequency of heterozygotes for this mutation is less than 1/250.
  • The incidence of PKU homozygous for this mutation is estimated to not exceed 1/100,000.

Conclusions:

  • The p.G352fsdelG mutation is not prevalent in the Moroccan population.
  • This mutation is likely responsible for a small number of PKU cases in Morocco.
  • Previous reports of high prevalence may be due to selection bias.

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