A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome
Annals of Laboratory Medicine
;
: 390-394, 2014.
Article
in English
| WPRIM
| ID: wpr-216382
ABSTRACT
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Phenotype
/
Repressor Proteins
/
Tooth Abnormalities
/
Abnormalities, Multiple
/
Bone Diseases, Developmental
/
Chromosomes, Human, Pair 16
/
Gene Deletion
/
Facies
/
Asian People
/
Electroencephalography
Type of study:
Prognostic study
Limits:
Child
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
English
Journal:
Annals of Laboratory Medicine
Year:
2014
Type:
Article
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