Growth failure

Gene: IGF1

Green List (high evidence)

Woods et al. (1996) reported a patient with with severe IUGR and postnatal growth retardation and a homozygous deletion in the IGF1 gene. Both parents were heterozygous for the deletion, and the mother and father were 154 cm and 163 cm tall, suggesting their short stature and borderline low serum IGF1 concentrations might represent a heterozygous effect. Similar findings in many patients since.

Heterozygous IGF1 gene defects have been reported as a cause of mild and severe short stature. Staels et al (2021) reported heterozygous IGF1 deletions in 5 patients with short stature, microcephaly, and small for gestational age diagnosed with IGF1 haploinsufficiency. Fuqua et al. (2012) identified a heterozygous IGF1 splicing variant in a family with 5 affected people with severe short stature.

Created: 17 Aug 2021, 11:25 p.m. | Last Modified: 17 Aug 2021, 11:25 p.m.

Panel Version: 0.168

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Growth retardation with deafness and mental retardation due to IGF1 deficiency, OMIM # 608747

Publications

• PMID: 8857020, 15769976, 14684690, 31539878, 28768959, 34125705, 22832530