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

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.

Röthlisberger B ，Hoigné I ，Huber AR ，Brunschwiler W ，Capone Mori A ... -  《-》

Interstitial deletion of chromosome 7q in a patient with Williams syndrome and infantile spasms.

Interstitial deletion of 7q11.23-q21.11 was identified by cytogenetic methods in a 4-year-old boy with Williams syndrome (WS) and infantile spasms. Deletion of the elastin (ELN) gene and the DNA polymorphic markers, D7S1870, D7S2490, D7S2518, and D7S2421, were identified in the patient, but the loci for D7S653 and D7S675 were not involved. Zackowski et al. (1990) reported that 6 of 16 patients with the interstitial deletion of 7q11.2-q22 had abnormal electro encephalograms, or seizures, or both, and that infantile spasms were present in 2 of the 6 patients. WS is a well defined developmental disorder characterized by distinct facial features, gregarious personality, and congenital heart defects. Seizures are not generally associated with this syndrome. WS commonly is characterized by deletion of the loci for ELN and D7S1870, but not those for D7S2490, D7S2518, or D7S2421. This suggests that a gene responsible for infantile spasms is located in the 2.7-cM interval between loci D7S1870 and D7S675.

Mizugishi K ，Yamanaka K ，Kuwajima K ，Kondo I ... -  《JOURNAL OF HUMAN GENETICS》

Infantile spasms in two children with Williams syndrome.

We describe two children with Williams syndrome and infantile spasms. The diagnosis of Williams syndrome was confirmed by documentation of a deletion of the elastin gene/Williams syndrome region at 7q11.23. The diagnosis of infantile spasms was confirmed through the presence of interictal hypsarrhythmia. This represents one of the first reports of infantile spasms in the Williams syndrome.

Tsao CY ，Westman JA 《american journal of medical genetics》

Infantile spasms in a patient with williams syndrome and craniosynostosis.

Morimoto M ，An B ，Ogami A ，Shin N ，Sugino Y ，Sawai Y ，Usuku T ，Tanaka M ，Hirai K ，Nishimura A ，Hasegawa K ，Sugimoto T ... -  《EPILEPSIA》

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Marshall CR ，Young EJ ，Pani AM ，Freckmann ML ，Lacassie Y ，Howald C ，Fitzgerald KK ，Peippo M ，Morris CA ，Shane K ，Priolo M ，Morimoto M ，Kondo I ，Manguoglu E ，Berker-Karauzum S ，Edery P ，Hobart HH ，Mervis CB ，Zuffardi O ，Reymond A ，Kaplan P ，Tassabehji M ，Gregg RG ，Scherer SW ，Osborne LR ... -  《-》