Rare Diseases Symptoms Automatic Extraction

Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.

[canavan disease]

To establish a technique for mutation identification and prenatal screening in confirmed cases of Canavan disease.Mutations in ASPA gene were identified by sequencing. Six exons of ASPA gene were amplified using intronic primers flanking the exons and then sequenced on ABI 3500Dx automated unit. This technique was used to identify mutations in three cases of Canavan disease. Prenatal diagnosis was performed in two families.Two reported mutations c.162 C > A (p.Asn54Lys) and c.859 G > A (p.Ala287Thr) were identified in two different cases of Canavan disease. Third case was compound heterozygous for two novel mutations (c.728 T > G, p.Ile243Ser; c.902 T > C, p.Leu301Pro). Prenatal diagnosis was performed in three pregnancies in two families, two affected fetuses and one unaffected fetus were identified.Molecular characterization of Canavan disease helps identify the cause at genetic level, thus confirming diagnosis and enabling identification of carriers in the family. Though enzyme assay and NAA measurement allows diagnosis and prenatal diagnosis of Canavan diasease, molecular methods have the advantage of bringing accuracy in prenatal testing with an earlier result. This is the first case report of mutation studies in Canavan disease from Indian subcontinent.

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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