Deletion of 7q11.21-q11.23 and infantile spasms without deletion of MAGI2

American Journal of Medical Genetics. Part a
Benno RöthlisbergerAndrea Capone Mori

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.

References

Jun 27, 2001·Reproduction : the Official Journal of the Society for the Study of Fertility·P HyttelT Greve
Oct 2, 2001·American Journal of Medical Genetics·A Schinzel, D Niedrist
Jun 11, 2003·American Journal of Human Genetics·Mònica BayésLuis A Pérez Jurado
Nov 26, 2003·Epilepsia·Masafumi MorimotoTohru Sugimoto
Jan 6, 2005·American Journal of Medical Genetics. Part a·Miguel Fernández-Burriel TerceroFrancisco Rodríguez-Quiñones
Jun 21, 2008·American Journal of Human Genetics·Christian R MarshallLucy R Osborne

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Citations

Jun 23, 2011·European Journal of Human Genetics : EJHG·Alex R PaciorkowskiWilliam B Dobyns
Dec 27, 2011·Pediatric Neurology·Mario Mastrangelo, Vincenzo Leuzzi
Nov 26, 2011·Pediatric Neurology·Alex R PaciorkowskiWilliam B Dobyns
Dec 7, 2013·Asian Journal of Psychiatry·Khaled SaadReda Badry
Dec 17, 2014·European Journal of Medical Genetics·Nadia Boutry-KryzaGaetan Lesca
Oct 28, 2016·Journal of Cellular Physiology·Antonio CelentanoNicola Cirillo
Mar 17, 2015·Indian Journal of Pediatrics·İpek PolatSemra Hiz
Oct 7, 2015·American Journal of Medical Genetics. Part a·Francesco NicitaAlberto Verrotti

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