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

Vasques, Gabriela A; Hisado-Oliva, Alfonso; Funari, Mariana F A; Lerário, Antônio Marcondes; Quedas, Elisangela P S; Solberg, Paulo; Heath, Karen E.; Jorge, Alexander A L

doi:10.1515/jpem-2016-0280

Cited by 14 publications

(9 citation statements)

References 13 publications

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“…This variability is likely due to differences in age of initiation, dosing, and/or manipulation of endogenous sex steroids to extend duration of growth [15]. Our patient demonstrated an excellent response to rhGH therapy similar to a recent report by Vasques et al [15].…”

Section: Discussionsupporting

confidence: 83%

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Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia

Jacob

Menon

Botti

et al. 2018

Case Reports in Endocrinology

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Endochondral ossification at the level of the growth plate, an essential process involved in longitudinal growth, is regulated by hormonal and local factors including C-type natriuretic peptide and its receptor, natriuretic peptide receptor B. Biallelic loss-of-function mutations in the NPR2 gene, which encodes this receptor, cause acromesomelic dysplasia, Maroteaux type (AMDM), a skeletal dysplasia characterized by severe short stature and disproportionate shortening of limbs. Heterozygous NPR2 mutations have been reported in patients previously classified with idiopathic short stature (ISS). We report the presentation of a 7-year-old girl and her mother with short stature, both of whom were identified with the same NPR2 mutation, and who demonstrated clinical and radiological features consistent with a skeletal dysplasia. We also report the patient's response to recombinant human growth hormone (rhGH) over a 2-year period. We encourage clinicians who evaluate children with ISS to consider genetic testing, particularly when the presentation is associated with features suggestive of a skeletal dysplasia.

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Section: Discussionsupporting

confidence: 83%

“…Variable responses to rhGH treatment have been reported in 8 patients with NPR2 heterozygosity, with the change in height SDS ranging from – 0.3 to + 1.8 [15]. This variability is likely due to differences in age of initiation, dosing, and/or manipulation of endogenous sex steroids to extend duration of growth [15].…”

Section: Discussionmentioning

confidence: 99%

Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia

Jacob

Menon

Botti

et al. 2018

Case Reports in Endocrinology

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“…In the three patients with pathogenic CNVs, we performed WES according to previously published protocols . Briefly, the libraries were constructed with the SureSelect Target Enrichment System (Agilent Technologies, USA) according to the manufacturer's instructions.…”

Section: Methodsmentioning

confidence: 99%

Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes

Correa

Jorge

Nakaguma

et al. 2018

Clinical Endocrinology

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“…Here, we took advantage of our 5-year experience as a largescale sequencing core facility to build a representative local genomic database for the southeastern Brazilian population, SELAdb. Although many individuals included in SELAdb are patients or family members with rare Mendelian disorders, contributing to the identification of novel diseasecausing variants (28)(29)(30)(31)(32)(33)(34)(35)(36)(37)(38)(39)(40), our analyses demonstrate that it adequately represents our local patient population. Through ancestry analysis, we observed that the population captured by SELAdb bears diverse genetic influences, which are characteristic of the admixed southeastern Brazilian population, similar to previous reports (3).…”

Section: ' Discussionmentioning

confidence: 98%

SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo

Lerário

Mohan

Montenegro

et al. 2020

Clinics

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OBJECTIVES: High-throughput sequencing of genomes, exomes, and disease-focused gene panels is becoming increasingly common for molecular diagnostics. However, identifying a single clinically relevant pathogenic variant among thousands of genetic polymorphisms is a challenging task. Publicly available genomic databases are useful resources to filter out common genetic variants present in the population and enable the identification of each disease-causing variant. Based on our experience applying these technologies at Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP), São Paulo, Brazil, we recognized that the Brazilian population is not adequately represented in widely available genomic databases. METHODS: Here, we took advantage of our 5-year experience as a high-throughput sequencing core facility focused on individuals with putative genetic disorders to build a genomic database that may serve as a more accurate reference for our patient population: SELAdb. RESULTS/CONCLUSIONS: Currently, our database comprises a final cohort of 523 unrelated individuals, including patients or family members managed by different clinics of HCFMUSP. We compared SELAdb with other publicly available genomic databases and demonstrated that this population is very heterogeneous, largely resembling Latin American individuals of mixed origin, rather than individuals of pure European ancestry. Interestingly, exclusively through SELAdb, we identified a spectrum of known and potentially novel pathogenic variants in genes associated with highly penetrant Mendelian disorders, illustrating that pathogenic variants circulating in the Brazilian population that is treated in our clinics are underrepresented in other population databases. SELAdb is freely available for public consultation at: http://intranet.fm.usp.br/sela

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

Abstract: 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.

Cited by 14 publications

References 13 publications

Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia

Heterozygous NPR2 Mutation in Two Family Members with Short Stature and Skeletal Dysplasia

Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes

SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo

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