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 3500 Dx 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 .Asn 54 Lys ) and c .859 G > A (p .Ala 287 Thr ) were identified in two different cases of Canavan disease . Third case was compound heterozygous for two novel mutations (c .728 T > G , p .Ile 243 Ser ; c .902 T > C , p .Leu 301 P ro ). 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 .