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Bilateral radial ulnar synostosis and vertebral anomalies in a child with a de novo 16p13.3 interstitial deletion.

Tam A, Lee KS, Lee S, Burkhalter W, Pascua LU, Slavin TP - Case Rep Genet (2013)

Bottom Line: We describe an 8-year-old boy with developmental delay, clinical bilateral radial ulnar synostosis, Klippel-Feil anomaly, and other vertebral deformities who was found to have a de novo deletion of 114.5kb at 16p13.3.The specific deletion has never been previously reported.None of the regulatory elements have any known linkage to skeletal formation and/or maintenance.

View Article: PubMed Central - PubMed

Affiliation: University of Hawaii, John A. Burns School of Medicine, Honolulu, HI 96813, USA ; Hawaii Community Genetics, Ala Moana Building, 1441 Kapiolani Blvd, Suite 1800, Honolulu, HI 96814, USA.

ABSTRACT
We describe an 8-year-old boy with developmental delay, clinical bilateral radial ulnar synostosis, Klippel-Feil anomaly, and other vertebral deformities who was found to have a de novo deletion of 114.5kb at 16p13.3. The deletion contains five genes and three miRNAs. The genes are E4F1, DNASE1L2, ECI1, RNPS1, and ABCA3; miRNAs are MIR3677, MIR940, and MIR4717. The specific deletion has never been previously reported. We describe the phenotype of the boy and review the genes in the deleted region. None of the regulatory elements have any known linkage to skeletal formation and/or maintenance. We believe this deletion is causative given that it was de novo and that this patient cannot be easily explained as having any other specific recognizable pattern of human malformation.

No MeSH data available.


Related in: MedlinePlus

Microarray characterization of the 16p13.3 deletion described herein. Microarray plot showing single-copy loss of 13 oligonucleotide probes from 16p13.3, approximately 114 kb in size (chr16:2,206,663-2,321,155, hg18 coordinates). Probes are ordered on the x-axis according to physical mapping positions, with the most distal 16p13.3 probes to the left and the most proximal 16p13.3 probes to the right. Values along the y-axis represent log2 ratios of patient: control signal intensities. Results are visualized using Genoglyphix (Signature Genomics, Spokane, WA, USA).
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fig4: Microarray characterization of the 16p13.3 deletion described herein. Microarray plot showing single-copy loss of 13 oligonucleotide probes from 16p13.3, approximately 114 kb in size (chr16:2,206,663-2,321,155, hg18 coordinates). Probes are ordered on the x-axis according to physical mapping positions, with the most distal 16p13.3 probes to the left and the most proximal 16p13.3 probes to the right. Values along the y-axis represent log2 ratios of patient: control signal intensities. Results are visualized using Genoglyphix (Signature Genomics, Spokane, WA, USA).

Mentions: Signature Genomic Laboratories, SignatureChiOS(Tm), version 2, 135 K microarray (Spokane, WA, USA) completed on blood showed a 114.5 Kb interstitial deletion, arr 16p13.3(2,206,663–2,321,155) × 1 dn (based on UCSC hg18 assembly) (Figure 4). Fluorescence in situ hybridization (FISH) analysis of interphase nuclei using a BAC clone from the deleted region confirmed a deletion, ish del(16)p13.3p13.3)(RP11-657D15-) dn. Parental analyses were performed and neither parent was found to carry a deletion or rearrangement of the 16p13.3 region. Thus the deletion identified in this patient was apparently de novo in origin. The deletion contains five genes and three miRNAs. The genes are E4F1, DNASE1L2, ECI1, RNPS1, and ABCA3; miRNAs are MIR3677, MIR940, and MIR4717 (Table 1). Complete blood count was normal and Fanconi's anemia testing by chromosome breakage was normal.


Bilateral radial ulnar synostosis and vertebral anomalies in a child with a de novo 16p13.3 interstitial deletion.

Tam A, Lee KS, Lee S, Burkhalter W, Pascua LU, Slavin TP - Case Rep Genet (2013)

Microarray characterization of the 16p13.3 deletion described herein. Microarray plot showing single-copy loss of 13 oligonucleotide probes from 16p13.3, approximately 114 kb in size (chr16:2,206,663-2,321,155, hg18 coordinates). Probes are ordered on the x-axis according to physical mapping positions, with the most distal 16p13.3 probes to the left and the most proximal 16p13.3 probes to the right. Values along the y-axis represent log2 ratios of patient: control signal intensities. Results are visualized using Genoglyphix (Signature Genomics, Spokane, WA, USA).
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC3713326&req=5

fig4: Microarray characterization of the 16p13.3 deletion described herein. Microarray plot showing single-copy loss of 13 oligonucleotide probes from 16p13.3, approximately 114 kb in size (chr16:2,206,663-2,321,155, hg18 coordinates). Probes are ordered on the x-axis according to physical mapping positions, with the most distal 16p13.3 probes to the left and the most proximal 16p13.3 probes to the right. Values along the y-axis represent log2 ratios of patient: control signal intensities. Results are visualized using Genoglyphix (Signature Genomics, Spokane, WA, USA).
Mentions: Signature Genomic Laboratories, SignatureChiOS(Tm), version 2, 135 K microarray (Spokane, WA, USA) completed on blood showed a 114.5 Kb interstitial deletion, arr 16p13.3(2,206,663–2,321,155) × 1 dn (based on UCSC hg18 assembly) (Figure 4). Fluorescence in situ hybridization (FISH) analysis of interphase nuclei using a BAC clone from the deleted region confirmed a deletion, ish del(16)p13.3p13.3)(RP11-657D15-) dn. Parental analyses were performed and neither parent was found to carry a deletion or rearrangement of the 16p13.3 region. Thus the deletion identified in this patient was apparently de novo in origin. The deletion contains five genes and three miRNAs. The genes are E4F1, DNASE1L2, ECI1, RNPS1, and ABCA3; miRNAs are MIR3677, MIR940, and MIR4717 (Table 1). Complete blood count was normal and Fanconi's anemia testing by chromosome breakage was normal.

Bottom Line: We describe an 8-year-old boy with developmental delay, clinical bilateral radial ulnar synostosis, Klippel-Feil anomaly, and other vertebral deformities who was found to have a de novo deletion of 114.5kb at 16p13.3.The specific deletion has never been previously reported.None of the regulatory elements have any known linkage to skeletal formation and/or maintenance.

View Article: PubMed Central - PubMed

Affiliation: University of Hawaii, John A. Burns School of Medicine, Honolulu, HI 96813, USA ; Hawaii Community Genetics, Ala Moana Building, 1441 Kapiolani Blvd, Suite 1800, Honolulu, HI 96814, USA.

ABSTRACT
We describe an 8-year-old boy with developmental delay, clinical bilateral radial ulnar synostosis, Klippel-Feil anomaly, and other vertebral deformities who was found to have a de novo deletion of 114.5kb at 16p13.3. The deletion contains five genes and three miRNAs. The genes are E4F1, DNASE1L2, ECI1, RNPS1, and ABCA3; miRNAs are MIR3677, MIR940, and MIR4717. The specific deletion has never been previously reported. We describe the phenotype of the boy and review the genes in the deleted region. None of the regulatory elements have any known linkage to skeletal formation and/or maintenance. We believe this deletion is causative given that it was de novo and that this patient cannot be easily explained as having any other specific recognizable pattern of human malformation.

No MeSH data available.


Related in: MedlinePlus