15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature

Abstract 15q26 deletion is a rare genomic disorder characterized by intrauterine and postnatal growth retardation, microcephaly, intellectual disability, and congenital malformations. Here, we report a 4‐month‐old female with intrauterine growth retardation, short stature, pulmonary hypertension, atrial septal defect and congenital bowing of long bones of the legs. Chromosomal microarray analysis showed a de novo deletion of approximately 2.1 Mb at 15q26.3 region that does not include IGF1R . Our analysis of patients documented in the literature and the DECIPHER database with 15q26 deletions distal to IGF1R , including 10 patients with de novo pure deletions, allowed us to define the smallest region of overlap to 686 kb. This region includes ALDH1A3 , LRRK1 , CHSY1 , SELENOS , SNRPA1 , and PCSK6 . We propose haploinsufficiency of one or more genes, besides IGF1R , within this region may contribute to the clinical findings in patients with 15q26.3 deletion.