Potocki-Shaffer syndrome revealed in a WAGR syndrome case with multiple exostoses

Takeshi Yaga¹, Akihiro Iguchi², Robert Nakayama^{3

4}, Rika Kosaki⁵, Akira Ishiguro^{1

2}

Affiliations

¹ Center for Postgraduate Education and Training, National Center for Child Health and Development (NCCHD), Tokyo, Japan.
² Division of Hematology, NCCHD, Tokyo, Japan.
³ Division of Orthopedic Surgery, NCCHD, Tokyo, Japan.
⁴ Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan.
⁵ Division of Medical Genetics, NCCHD, Tokyo, Japan.

Takeshi Yaga et al. Pediatr Int. 2023 Jan.

. 2023 Jan;65(1):e15405.

doi: 10.1111/ped.15405.

Takeshi Yaga¹, Akihiro Iguchi², Robert Nakayama^{3

4}, Rika Kosaki⁵, Akira Ishiguro^{1

2}

¹ Center for Postgraduate Education and Training, National Center for Child Health and Development (NCCHD), Tokyo, Japan.
² Division of Hematology, NCCHD, Tokyo, Japan.
³ Division of Orthopedic Surgery, NCCHD, Tokyo, Japan.
⁴ Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan.
⁵ Division of Medical Genetics, NCCHD, Tokyo, Japan.

No abstract available

Keywords: Potocki-Shaffer syndrome; WAGR syndrome; chromosome 11; exostoses; long-term follow-up.

References

1. Potocki L, Shaffer LG. Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2). Am J Med Genet. 1996;62:319-25.
1. Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG. Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome. Am J Hum Genet. 2000;67:1327-32.
1. Meng Y, Yang J, Tian C, Qiao J. Identification of a 6-month-old baby with a combination of WAGR and Potocki-Shaffer contiguous deletion syndromes by SNP array testing. Hereditas. 2020;157(1):23.
1. Delplancq G, Boukebir MA, Amsakkem D, Thines L, Rozé V, Dahlen E, et al. The largest germline heterozygous deletion encompassing Potocki-Shaffer and WAGR syndromes loci to date: a case report. Neuropediatrics. 2022;53:274-8.
1. Porter DE, Lonie L, Fraser M, Dobson-Stone C, Porter JR, Monaco AP, et al. Severity of disease and risk of malignant change in hereditary multiple exostoses. A genotype-phenotype study. J Bone Joint Surg Br. 2004;86:1041-6.