Identification of chromosome 15q26 terminal deletion with telomere sequences and its bearing on genotype-phenotype analysis

Endocrine Journal

Hiroyuki Moriuchi²  Goro Sasaki¹  Yoko Tanaka¹  Sumito Dateki³  Tsutomu Ogata³  Maki Fukami³ 

[1] Department of Pediatrics, Tokyo Dental College Ichikawa General Hospital, Ichikawa, Japan;Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan;Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan

关键词: 15q deletion;    IGF1R;    Telomere;    Congenital heart defect;   

DOI  :  10.1507/endocrj.K10E-251

学科分类：内分泌与代谢学

来源: Japan Endocrine Society

【 摘 要 】

References(19)Cited-By(2)We report a de novo heterozygous 5,013,940 bp terminal deletion of chromosome 15q26 in a 13 9/12 -year-old Japanese girl with short stature (-3.9 SD), mild mental retardation, and ventricular septal defect (VSD).This terminal deletion involved IGF1R but not NR2F2, and was associated with an addition of telomere repeat sequences (TTAGGG) at the end of the truncated chromosome.The results provide further support for the notion that terminal deletions are healed by de novo addition of telomere sequences essential for chromosome stability and DNA replication.Furthermore, while growth failure and mental retardation are primarily explained by loss of IGF1R, the occurrence of VSD might suggest the existence of a cardiac anomaly gene, other than the candidate cardiac anomaly gene NR2F2, in the deleted region.

【 授权许可】

Unknown