title: Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2.
abstract: We report on the clinical and cytogenetic findings and on the array-based characterization of an interstitial 7q11.21-q11.23 deletion initially recognized by standard karyotyping in a 15-month-old female patient. Beginning at the age of 3 months and 2 weeks the patient had severe infantile spasms. Recently, it was reported that infantile spasms are associated with deletion of the MAGI2 gene on chromosome 7q11.23. Nevertheless, not all patients reported with deletions of MAGI2 developed infantile spasms and at least one reported patient with a deletion 7q11.23 without missing the MAGI2 gene was diagnosed with infantile spasms. Molecular karyotyping of our patient confirmed a large 13 Mb deletion encompassing the 7q11.21-q11.23 region without involvement of MAGI2. Critical review of published data and the results of our patient underline the importance to map precisely the deletion boundaries of further patients to reevaluate the significance of MAGI2 hemizygosity in the pathogenesis of infantile spasms.
authors.affiliation: Center of Laboratory Medicine, Cantonal Hospital, Aarau, Switzerland. benno.roethlisberger@ksa.ch
authors.forename: Benno
authors.initials: B
authors.lastname: Röthlisberger
authors.forename: Irène
authors.initials: I
authors.lastname: Hoigné
authors.forename: Andreas R
authors.initials: AR
authors.lastname: Huber
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Brunschwiler
authors.forename: Andrea
authors.initials: A
authors.lastname: Capone Mori
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D055028:Comparative Genomic Hybridization; D005260:Female; D051528:Guanylate Kinases; D006801:Humans; D007223:Infant; D007621:Karyotyping; D018895:Microsatellite Repeats; D017384:Sequence Deletion; D013036:Spasms, Infantile / Q000235:genetics*; D013577:Syndrome; D018980:Williams Syndrome / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; D051528:Guanylate Kinases; C485777:MAGI2 protein, human