A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome
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KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper cen- tral 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 fea- tures of KBG syndrome. The patient had a short stature, macrodontia, dysmorphic facial features, speech and motor delay with intellectual disability, and partial seizures as indi- cated 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.
Abstract
KBG syndrome is a very rare genetic disorder characterized by macrodontia of upper cen- tral 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 fea- tures of KBG syndrome. The patient had a short stature, macrodontia, dysmorphic facial features, speech and motor delay with intellectual disability, and partial seizures as indi- cated 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.
참고문헌 (11)
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