A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome

作者：Lim Ji Hun; Seo Eul Ju^*; Kim Yoo Mi; Cho Hyun Ju; Lee Jin Ok; Cheon Chong Kun; Yoo Han Wook

来源：Annals of Laboratory Medicine, 2014, 34(5): 390-394.

DOI：10.3343/alm.2014.34.5.390

• KBG syndrome
• ANKRD11
• Array CGH
• 16q24.3 microdeletion

KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper central incisors, global developmental delay, distinctive craniofacial features, short stature, and skeletal anomalies. Ankyrin repeat domain 11 gene (ANKRD11) has recently been identified as a causal factor of this syndrome. We describe a 6-yr-old Korean boy with features of KBG syndrome. The patient had a short stature, macrodontia, dysmorphic facial features, speech and motor delay with intellectual disability, and partial seizures as indicated by the electroencephalogram, but he was neither autistic nor had autism spectrum disorders. Using-high-resolution oligonucleotide array comparative genomic hybridization, we identified a heterozygous 240-kb deletion at 16q24.3 corresponding to ANKRD11. This patient provided additional evidence on the influence of ANKRD11 in KBG syndrome and suggested that deletion limited to ANKRD11 is unlikely to cause autism.

• 出版日期2014-9