The phenotype and rhGH treatment response of ring Chromosome 15 Syndrome: Case report and literature review. Issue 12 (8th November 2021)

• Record Type: Journal Article
• Authors: Chen, Meiping; Ke, Xiaoan; Liang, Hanting; Gong, Fengying; Yang, Hongbo; Wang, Linjie; Duan, Lian; Pan, Hui; Cao, Dongyan; Zhu, Huijuan
• Is Part Of: Molecular genetics & genomic medicine. Volume 9:Issue 12(2021)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2021-11-08
• Subjects: clinical characteristic -- rhGH treatment -- ring chromosome 15 -- short stature; Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.1842
• Languages: English
• ISSNs: 2324-9269

Abstract

Abstract: Background: Ring chromosome 15 [r (15)] is an uncommon finding with various clinical manifestations. A common phenotype for these patients has not been established and data on the efficacy of recombinant human growth hormone (rhGH) treatment in patients with r (15) syndrome are limited. Methods: One short stature patient in our hospital with r (15) syndrome by whole exome sequencing (WES) and karyotype examination was included. All published r (15) syndrome cases as of March 15, 2021, were searched, and their clinical information was recorded and summarized. Results: One 11.5‐year‐old female with prenatal and postnatal growth retardation, ventricular septal defect, intellectual disability, downward corners, short fifth metacarpal bone, scattered milk coffee spots, and a right ovarian cyst was included. Her height was 126.9 cm (−3.45 SDS). Karyotype analysis showed 46, XX, r (15). WES revealed a 4.5 Mb heterozygous deletion in the chromosome 15q26.2‐q26.3 region, encompassing genes from ARRDC4 to OR4F15 . Gonadotrophin‐releasing hormone analogue (triptorelin) and rhGH were administered for 6 months. The height has increased 3.8 cm (+0.2SDS) and the calculated growth rate has improved from 4.7 to 7.6 cm/y. The literature review indicated the main clinical manifestations of r (15) syndrome with prenatal and postnatal growth retardation, characteristic craniofacial features, and multisystem abnormalities, and rhGH treatment is beneficial for r (15) syndrome patients with short stature. Conclusion: We delineate the clinical spectrum of r (15) syndrome with the identification of an additional individual and rhGH treatment is beneficial for r (15) syndrome patients with short stature.