Setleis syndrome: genetic and clinical findings in a new case with epilepsy.
BACKGROUND
Focal facial dermal dysplasias are a group of inherited ectodermal disorders characterized by congenital bitemporal or periauricular scar-like depressions as well as other facial and nonfacial developmental defects. Four subtypes have been delineated, and mutations in the TWIST2 gene have been identified in type III focal facial dermal dysplasia (Setleis syndrome).


METHODS
We describe a sporadic patient with the hallmark bitemporal scar-like lesions, severe intellectual disability, and focal epilepsy.


RESULTS
The boy has typical features of Setleis syndrome, and he developed focal epilepsy, a previously unreported feature of this syndrome. No mutations in the TWIST2 gene were found, and there were no pathologic copy number abnormalities.


CONCLUSIONS
Epilepsy could represent a new manifestation, and the patient described broadens the spectrum of clinical features associated with Setleis syndrome, including central nervous system involvement.
Pediatric Neuropsychiatric Division, Spedali Civili, Brescia, Italy.
Lucio
L
Giordano
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York.
Robert J
RJ
Desnick
Pediatric Neuropsychiatric Division, Spedali Civili, Brescia, Italy. Electronic address: anna.molinaro@gmail.com.
Anna
A
Molinaro
Division of Medical Genetics, Galliera Hospital, Genova, Italy.
Vera
V
Uliana
Division of Medical Genetics, Galliera Hospital, Genova, Italy.
Francesca
F
Forzano
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York.
Lisa
L
Edelmann
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York.
Irene
I
Nazarenko
Department of Neuroradiology, Spedali Civili, Brescia, Italy.
Lorenzo
L
Pinelli
Pediatric Neuropsychiatric Division, Spedali Civili, Brescia, Italy.
Patrizia
P
Accorsi
Division of Medical Genetics, Galliera Hospital, Genova, Italy.
Francesca
F
Faravelli
D001132:Arm / Q000473:pathology; D001921:Brain / Q000503:physiopathology; D002648:Child; D004476:Ectodermal Dysplasia; D004569:Electroencephalography; D004827:Epilepsy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D005145:Face / Q000473:pathology; D005489:Focal Dermal Hypoplasia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D000090303:Focal Facial Dermal Dysplasias; D006801:Humans; D008297:Male; D012097:Repressor Proteins / Q000235:genetics; D012871:Skin Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D051879:Twist-Related Protein 1 / Q000235:genetics
D012097:Repressor Proteins; C486274:TWIST2 protein, human; D051879:Twist-Related Protein 1
Setleis syndrome; TWIST2 gene; developmental delay; epilepsy; focal facial dermal dysplasias