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The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.

Sohn YB, Yim SY, Cho EH, Kim OH - J. Korean Med. Sci. (2015)

Bottom Line: Coronal craniosynostosis and enlarged parietal foramina were found on skull radiographs.This case confirms and extends data on the genetic basis of PSS.In clinical and radiologic aspect, a patient with multiple exostoses accompanying with syndromic features, including craniofacial abnormalities and mental retardation, the diagnosis of PSS should be considered.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Korea.

ABSTRACT
Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including multiple exostoses, biparietal foramina, abnormalities of genitourinary system, hypotonia, developmental delay, and intellectual disability. We report here on the first Korean case of an 8-yr-old boy with PSS diagnosed by high resolution microarray. Initial evaluation was done at age 6 months because of a history of developmental delay, hypotonia, and dysmorphic face. Coronal craniosynostosis and enlarged parietal foramina were found on skull radiographs. At age 6 yr, he had severe global developmental delay. Multiple exostoses of long bones were detected during a radiological check-up. Based on the clinical and radiological features, PSS was highly suspected. Subsequently, chromosomal microarray analysis identified an 8.6 Mb deletion at 11p11.2 [arr 11p12p11.2 (Chr11:39,204,770-47,791,278)×1]. The patient continued rehabilitation therapy for profound developmental delay. The progression of multiple exostosis has being monitored. This case confirms and extends data on the genetic basis of PSS. In clinical and radiologic aspect, a patient with multiple exostoses accompanying with syndromic features, including craniofacial abnormalities and mental retardation, the diagnosis of PSS should be considered.

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Related in: MedlinePlus

Result of chromosomal microarray. The red bar indicates an 8.6 Mb deletion at 11p11.2p12 including EXT2, ALX4, and PHF21A.
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Figure 3: Result of chromosomal microarray. The red bar indicates an 8.6 Mb deletion at 11p11.2p12 including EXT2, ALX4, and PHF21A.

Mentions: Based upon the retrospective review of the clinical chart and radiographs, PSS was firstly suggested and chromosomal microarray analysis using CytoScan™ 750K (Affymetrix, USA) was performed. The array is characterized with>750,436 CNV markers including 200,436 genotype-able SNP probes and 550,000 non-polymorphism probes. With informed consent, genomic DNA samples were extracted with Qiamp DNA Blood mini kit (Qiagen, USA) from peripheral blood. All data was visualized and analyzed with Chromosome Analysis Suite (ChAS) software Package (Affymetrix, USA) using genome build Hg 19. The chromosomal microarray revealed an 8.6 Mb deletion at 11p11.2p12 [arr 11p12p11.2 (Chr11:39,204,770-47,791,278)×1] and confirmed the molecular diagnosis of PSS. This deletion resulted in haploinsufficiency for all three genes, included EXT2, ALX4, and PHA21F (Fig. 3). After diagnosis of PSS, the patient continued rehabilitation therapy for profound developmental delay. The progression of multiple exostosis or developing pain have being monitored by radiologic exam every 6 month for need of surgical intervention.


The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.

Sohn YB, Yim SY, Cho EH, Kim OH - J. Korean Med. Sci. (2015)

Result of chromosomal microarray. The red bar indicates an 8.6 Mb deletion at 11p11.2p12 including EXT2, ALX4, and PHF21A.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4310950&req=5

Figure 3: Result of chromosomal microarray. The red bar indicates an 8.6 Mb deletion at 11p11.2p12 including EXT2, ALX4, and PHF21A.
Mentions: Based upon the retrospective review of the clinical chart and radiographs, PSS was firstly suggested and chromosomal microarray analysis using CytoScan™ 750K (Affymetrix, USA) was performed. The array is characterized with>750,436 CNV markers including 200,436 genotype-able SNP probes and 550,000 non-polymorphism probes. With informed consent, genomic DNA samples were extracted with Qiamp DNA Blood mini kit (Qiagen, USA) from peripheral blood. All data was visualized and analyzed with Chromosome Analysis Suite (ChAS) software Package (Affymetrix, USA) using genome build Hg 19. The chromosomal microarray revealed an 8.6 Mb deletion at 11p11.2p12 [arr 11p12p11.2 (Chr11:39,204,770-47,791,278)×1] and confirmed the molecular diagnosis of PSS. This deletion resulted in haploinsufficiency for all three genes, included EXT2, ALX4, and PHA21F (Fig. 3). After diagnosis of PSS, the patient continued rehabilitation therapy for profound developmental delay. The progression of multiple exostosis or developing pain have being monitored by radiologic exam every 6 month for need of surgical intervention.

Bottom Line: Coronal craniosynostosis and enlarged parietal foramina were found on skull radiographs.This case confirms and extends data on the genetic basis of PSS.In clinical and radiologic aspect, a patient with multiple exostoses accompanying with syndromic features, including craniofacial abnormalities and mental retardation, the diagnosis of PSS should be considered.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Korea.

ABSTRACT
Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including multiple exostoses, biparietal foramina, abnormalities of genitourinary system, hypotonia, developmental delay, and intellectual disability. We report here on the first Korean case of an 8-yr-old boy with PSS diagnosed by high resolution microarray. Initial evaluation was done at age 6 months because of a history of developmental delay, hypotonia, and dysmorphic face. Coronal craniosynostosis and enlarged parietal foramina were found on skull radiographs. At age 6 yr, he had severe global developmental delay. Multiple exostoses of long bones were detected during a radiological check-up. Based on the clinical and radiological features, PSS was highly suspected. Subsequently, chromosomal microarray analysis identified an 8.6 Mb deletion at 11p11.2 [arr 11p12p11.2 (Chr11:39,204,770-47,791,278)×1]. The patient continued rehabilitation therapy for profound developmental delay. The progression of multiple exostosis has being monitored. This case confirms and extends data on the genetic basis of PSS. In clinical and radiologic aspect, a patient with multiple exostoses accompanying with syndromic features, including craniofacial abnormalities and mental retardation, the diagnosis of PSS should be considered.

Show MeSH
Related in: MedlinePlus