Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.

[primary hyperoxaluria type 1]

Primary hyperoxaluria type 1 (PH 1 ) is an autosomal recessive inherited metabolic disease , characterized by progressive kidney failure due to renal deposition of calcium oxalate . Mutations in the AGXT gene , encoding the liver -specific enzyme alanine glyoxylate aminotransferase , are responsible for the disease . We aimed to determine the mutational spectrum causing PH 1 and to provide an accurate tool for diagnosis as well as for prenatal diagnosis in the affected families .Direct sequencing was used to detect mutations in the AGXT gene in DNA samples from 13 patients belonging to 12 Tunisian families .Molecular analysis revealed five mutations causing PH 1 in Tunisia . The mutations were identified along exons 1 , 2 , 4 , 5 and 7 . The most predominant mutations were the Maghrebian "p .I 244 T " and the Arabic "p .G 190 R ". Furthermore , three other mutations characteristic of different ethnic groups were found in our study population . These results confirm the mutational heterogeneity related to PH 1 in Tunisian population . All the mutations are in a homozygous state , reflecting the high impact of endogamy in our population .Mutation analysis through DNA sequencing can provide a useful first line investigation for PH 1 . This identification could provide an accurate tool for prenatal diagnosis , genetic counseling and screen for potential presymptomatic individuals .

Diseases
Validation

Diseases presenting "prenatal diagnosis" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cystinuria

dentinogenesis imperfecta

epidermolysis bullosa simplex

harlequin ichthyosis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

kindler syndrome

krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

oculocutaneous albinism

omenn syndrome

phenylketonuria

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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