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https://observatorio.fm.usp.br/handle/OPI/18741
Title: | Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2 |
Authors: | VASQUES, Gabriela A.; HISADO-OLIVA, Alfonso; FUNARI, Mariana F. A.; LERARIO, Antonio M.; QUEDAS, Elisangela P. S.; SOLBERG, Paulo; HEATH, Karen E.; JORGE, Alexander A. L. |
Citation: | JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, v.30, n.1, p.111-116, 2017 |
Abstract: | Background: Heterozygous loss-of-function mutations in the natriuretic peptide receptor B gene (NPR2) are responsible for short stature in patients without a distinct phenotype. Some of these patients have been treated with recombinant human growth hormone (rhGH) therapy with a variable response. 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-function NPR2 mutation (c.2905G>C; p.Val969Leu). Cells cotransfected with the p. Val969Leu mutant showed a significant decrease in cyclic guanosine monophosphate (cGMP) production compared to the wild type (WT), suggesting a dominant negative effect. Conclusions: This case reveals a novel heterozygous loss-of-function NPR2 mutation responsible for familial short stature and the good response of rhGH therapy in this patient. |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - FM/MCM Artigos e Materiais de Revistas Científicas - HC/ICESP Artigos e Materiais de Revistas Científicas - HC/ICHC Artigos e Materiais de Revistas Científicas - LIM/25 Artigos e Materiais de Revistas Científicas - LIM/42 |
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