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A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome.

Lim JH, Seo EJ, Kim YM, Cho HJ, Lee JO, Cheon CK, Yoo HW - Ann Lab Med (2014)

Bottom Line: Ankyrin repeat domain 11 gene (ANKRD11) has recently been identified as a causal factor of this 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.

View Article: PubMed Central - PubMed

Affiliation: Medical Genetics Center, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea. ; Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea. ; Department of Laboratory Medicine, Ulsan University Hospital, University of Ulsan College of Medicine, Ulsan, Korea.

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.

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Array comparative genomic hybridization data showing a 240-kb deletion in the proband. The red bar is shifted to a log2 ratio of -1 in the proband and indicates the deletion overlapping ANKRD11 and SPG7 at 16q24.3.The results of both parents indicate normal copy number.
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Figure 1: Array comparative genomic hybridization data showing a 240-kb deletion in the proband. The red bar is shifted to a log2 ratio of -1 in the proband and indicates the deletion overlapping ANKRD11 and SPG7 at 16q24.3.The results of both parents indicate normal copy number.

Mentions: Giemsa/trypsin/Leishman-banded chromosome analysis of the patient and his parents showed an apparently normal karyotype at the 550-band level. Array comparative genomic hybridization (array CGH) was performed by using an Agilent 180K whole-genome oligonucleotide array (version 4.0; Agilent Technologies, Santa Clara, CA, USA), following the manufacturer's protocol. Whole-genome high-resolution oligonucleotide array CGH detected a heterozygous 240-kb deletion at 16q24.3 (arr[hg19] 16q24.3(89,349,966-89,593,853)x1; Fig. 1). Array CGH analysis of parental DNA samples by using the same platform showed no deletion or gain in the 16q24.3 region (Fig. 1). Neither the proband nor the parents had a deletion or gain in any other region. This deletion covered ANKRD11 (including exons 2-13) and part of spastic paraplegia 7 gene (SPG7; including exons 1-5). Fig. 2 shows the genomic map of the deleted region in the proband and in previously reported cases.


A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome.

Lim JH, Seo EJ, Kim YM, Cho HJ, Lee JO, Cheon CK, Yoo HW - Ann Lab Med (2014)

Array comparative genomic hybridization data showing a 240-kb deletion in the proband. The red bar is shifted to a log2 ratio of -1 in the proband and indicates the deletion overlapping ANKRD11 and SPG7 at 16q24.3.The results of both parents indicate normal copy number.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4151010&req=5

Figure 1: Array comparative genomic hybridization data showing a 240-kb deletion in the proband. The red bar is shifted to a log2 ratio of -1 in the proband and indicates the deletion overlapping ANKRD11 and SPG7 at 16q24.3.The results of both parents indicate normal copy number.
Mentions: Giemsa/trypsin/Leishman-banded chromosome analysis of the patient and his parents showed an apparently normal karyotype at the 550-band level. Array comparative genomic hybridization (array CGH) was performed by using an Agilent 180K whole-genome oligonucleotide array (version 4.0; Agilent Technologies, Santa Clara, CA, USA), following the manufacturer's protocol. Whole-genome high-resolution oligonucleotide array CGH detected a heterozygous 240-kb deletion at 16q24.3 (arr[hg19] 16q24.3(89,349,966-89,593,853)x1; Fig. 1). Array CGH analysis of parental DNA samples by using the same platform showed no deletion or gain in the 16q24.3 region (Fig. 1). Neither the proband nor the parents had a deletion or gain in any other region. This deletion covered ANKRD11 (including exons 2-13) and part of spastic paraplegia 7 gene (SPG7; including exons 1-5). Fig. 2 shows the genomic map of the deleted region in the proband and in previously reported cases.

Bottom Line: Ankyrin repeat domain 11 gene (ANKRD11) has recently been identified as a causal factor of this 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.

View Article: PubMed Central - PubMed

Affiliation: Medical Genetics Center, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea. ; Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea. ; Department of Laboratory Medicine, Ulsan University Hospital, University of Ulsan College of Medicine, Ulsan, Korea.

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.

Show MeSH
Related in: MedlinePlus