Abstract
Deletions in the 9q33-q34 region have been reported in patients with early onset epileptic encephalopathy, but a consistent phenotype has yet to emerge. We report on the diagnosis of a de novo 9q33-q34.12 microdeletion of 4 Mb in a 15-month-old girl presenting with severe psychomotor delay, facial dysmorphisms, thin corpus callosum and early myoclonic encephalopathy. This deletion encompasses 101 RefSeq genes, including the four autosomal dominant genes STXBP1, SPTAN1, ENG and TOR1A. We discuss genetic, clinical and epileptic features comparing our patient with those previously reported in the literature.
| Original language | English |
|---|---|
| Pages (from-to) | 209-217 |
| Number of pages | 9 |
| Journal | Annals of Human Genetics |
| Volume | 79 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - May 1 2015 |
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Keywords
- 9q33-q34
- deletion
- DNM1
- early myoclonic encephalopathy
- EIEE
- SPTAN1
- STXBP1
ASJC Scopus subject areas
- Medicine(all)
Cite this
Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1. / Nicita, Francesco; Ulgiati, Fiorenza; Bernardini, Laura; Garone, Giacomo; Papetti, Laura; Novelli, Antonio; Spalice, Alberto.
In: Annals of Human Genetics, Vol. 79, No. 3, 01.05.2015, p. 209-217.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1
AU - Nicita, Francesco
AU - Ulgiati, Fiorenza
AU - Bernardini, Laura
AU - Garone, Giacomo
AU - Papetti, Laura
AU - Novelli, Antonio
AU - Spalice, Alberto
PY - 2015/5/1
Y1 - 2015/5/1
N2 - Deletions in the 9q33-q34 region have been reported in patients with early onset epileptic encephalopathy, but a consistent phenotype has yet to emerge. We report on the diagnosis of a de novo 9q33-q34.12 microdeletion of 4 Mb in a 15-month-old girl presenting with severe psychomotor delay, facial dysmorphisms, thin corpus callosum and early myoclonic encephalopathy. This deletion encompasses 101 RefSeq genes, including the four autosomal dominant genes STXBP1, SPTAN1, ENG and TOR1A. We discuss genetic, clinical and epileptic features comparing our patient with those previously reported in the literature.
AB - Deletions in the 9q33-q34 region have been reported in patients with early onset epileptic encephalopathy, but a consistent phenotype has yet to emerge. We report on the diagnosis of a de novo 9q33-q34.12 microdeletion of 4 Mb in a 15-month-old girl presenting with severe psychomotor delay, facial dysmorphisms, thin corpus callosum and early myoclonic encephalopathy. This deletion encompasses 101 RefSeq genes, including the four autosomal dominant genes STXBP1, SPTAN1, ENG and TOR1A. We discuss genetic, clinical and epileptic features comparing our patient with those previously reported in the literature.
KW - 9q33-q34
KW - deletion
KW - DNM1
KW - early myoclonic encephalopathy
KW - EIEE
KW - SPTAN1
KW - STXBP1
UR - http://www.scopus.com/inward/record.url?scp=84946727775&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84946727775&partnerID=8YFLogxK
U2 - 10.1111/ahg.12106
DO - 10.1111/ahg.12106
M3 - Article
C2 - 25779878
AN - SCOPUS:84946727775
VL - 79
SP - 209
EP - 217
JO - Annals of Human Genetics
JF - Annals of Human Genetics
SN - 0003-4800
IS - 3
ER -