Uctepe E, Aktas D, Alikasifoglu M, Gunduz E, Sonmez F M
Genet Couns. 2016;27(3):357-365.
The 17q21.31 microdeletion syndrome is characterized by intellectual disability, epilepsy, facial dysmorphism and friendly behavior. Recently, KANSLJ 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 MAP7 CRHR1, KANSLI, PLEKHMI genes in case I and CRHR1, PLEKHM but not KANSLJgenes 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 KANSLI gene. These data imply another gene or genes causing similar phenotype in this patient.
17q21.31微缺失综合征的特征为智力残疾、癫痫、面部畸形和友善行为。最近，KANSLJ基因被认为是导致该表型的主要致病基因。在此，我们报告两名患有不同癫痫类型且伴有与17q21.31微缺失综合征相关的其他畸形特征的土耳其患者。一名4岁女性患者有全身强直阵挛发作、轻度智力发育迟缓、畸形特征和友善行为，一名14岁女性有难治性癫痫、不同的畸形特征、严重的智力和运动发育迟缓以及自残行为，通过基于阵列的比较基因组杂交（微阵列比较基因组杂交）对她们进行了评估。微阵列比较基因组杂交在病例1中鉴定出包含MAP7、CRHR1、KANSLI、PLEKHMI基因的17q21.31微缺失，在病例2中鉴定出包含CRHR1、PLEKHM但不包含KANSLJ基因的17q21.31微缺失。据我们所知，这是首例不包含KANSLI基因的17q21.31微缺失患者的报告。这些数据表明该患者存在另一种或多种导致相似表型的基因。
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