Two cases with different epilepsy type and dysmorphic features associated with 17q21.31 microdeletion syndrome
Genetic Counseling, cilt.27, sa.3, ss.357-365, 2016 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 27 Sayı: 3
- Basım Tarihi: 2016
- Dergi Adı: Genetic Counseling
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.357-365
- Anahtar Kelimeler: Atypical 17q21.31 microdeletion syndrome, Haploinsufficiency, KANSL1 gene, Phenotypic expansion
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
The 17q21.31 microdeletion syndrome is characterized by intellectual disability, epilepsy, facial dysmorphism and friendly behavior. Recently, KANSL1 gene has been considered as a major causal gene for this phenotype. Here we report on two Turkish patients with different seizure types and additional dysmorphic features associated with 17q21.31 microdeletion syndrome. A 4 year-old female patient with generalized tonic-clonic seizures, mild mental retardation, dysmorphic features and friendly behavior and a 14 years-old female with intractable epilepsy, different dysmorphic features, severe mental and motor retardation and self-mutilation were evaluated by array-based comparative genomic hybridization (microarray CGH). Array CGH identified 17q21.31 microdeletion that contains MAPT, CRHR1, KANSL1, PLEKHM1 genes in case 1 and CRHR1, PLEKHM1 but not KANSL1 genes in case 2. To the best of our knowledge this is the first report of a patient with the 17q21.31 microdeletion which does not encompass KANSLl gene. These data imply another gene or genes causing similar phenotype in this patient.