Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2

Abstract

AbstractBackground:Heterozygous loss-of-function mutations in the natriuretic peptide receptor B gene (Case presentation:The proband was a healthy boy who presented at the age of 5.1 years with familial short stature (height SDS of −3.1). He had a prominent forehead, a depressed nasal bridge, centripetal fat distribution and a high-pitched voice resembling that of children with GH deficiency. His hormonal evaluation showed low insulin-like growth factor-1 (IGF-1) but a normal GH peak at a stimulation test. During the first year of rhGH treatment, his growth velocity increased from 3.4 to 10.4 cm/year (height SDS change of +1.1). At the last visit, he was 8.8 years old and still on treatment, his growth velocity was 6.4 cm/year and height SDS was −1.8.Results:We identified through exome sequencing a novel heterozygous loss-of-functionConclusions:This case reveals a novel heterozygous loss-of-function