TY - JOUR
T1 - Periventricular nodular heterotopia in Smith-Magenis syndrome
AU - Capra, Valeria
AU - Biancheri, Roberta
AU - Morana, Giovanni
AU - Striano, Pasquale
AU - Novara, Francesca
AU - Ferrero, Giovanni Battista
AU - Boeri, Luca
AU - Celle, Maria Elena
AU - Mancardi, Maria Margherita
AU - Zuffardi, Orsetta
AU - Parrini, Elena
AU - Guerrini, Renzo
PY - 2014/12/1
Y1 - 2014/12/1
N2 - Smith-Magenis syndrome (SMS) is caused by an interstitial microdeletion of chromosome 17p11.2. A few patients with the typical SMS phenotype have RAI1 gene mutations. The syndrome is characterized by minor craniofacial anomalies, short stature, sleep disturbances, behavioural and neurocognitive abnormalities, as well as variable multisystemic manifestations. Periventricular nodular heterotopia (PNH) is a genetically heterogeneous neuronal migration disorder characterized by subependymal heterotopic nodules, and is variably associated with other brain malformations, epileptic seizures and intellectual disability. Here we report on two patients harboring deletions of the 17p11.2 region in whom the SMS typical phenotype was associated with bilateral PNH. Our observations expand the spectrum of chromosomal rearrangements associated with PNH and indicate that abnormal neuronal migration may contribute to the neurocognitive phenotype of SMS.
AB - Smith-Magenis syndrome (SMS) is caused by an interstitial microdeletion of chromosome 17p11.2. A few patients with the typical SMS phenotype have RAI1 gene mutations. The syndrome is characterized by minor craniofacial anomalies, short stature, sleep disturbances, behavioural and neurocognitive abnormalities, as well as variable multisystemic manifestations. Periventricular nodular heterotopia (PNH) is a genetically heterogeneous neuronal migration disorder characterized by subependymal heterotopic nodules, and is variably associated with other brain malformations, epileptic seizures and intellectual disability. Here we report on two patients harboring deletions of the 17p11.2 region in whom the SMS typical phenotype was associated with bilateral PNH. Our observations expand the spectrum of chromosomal rearrangements associated with PNH and indicate that abnormal neuronal migration may contribute to the neurocognitive phenotype of SMS.
KW - 17p11.2 chromosomal deletion
KW - Periventricular nodular heterotopia (PNH)
KW - Smith-Magenis syndrome (SMS)
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U2 - 10.1002/ajmg.a.36742
DO - 10.1002/ajmg.a.36742
M3 - Article
C2 - 25257626
AN - SCOPUS:84911181317
VL - 164
SP - 3142
EP - 3147
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 12
ER -