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Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway

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Autor(es):
Malaquias, Alexsandra C. [1, 2] ; Brasil, Amanda S. [3] ; Pereira, Alexandre C. [4] ; Arnhold, Ivo J. P. [2] ; Mendonca, Berenice B. [2] ; Bertola, Debora R. [3] ; Jorge, Alexander A. L. [1, 2]
Número total de Autores: 7
Afiliação do(s) autor(es):
[1] FMUSP, Disciplina Endocrinol, Unidade Endocrinol Genet, Sao Paulo - Brazil
[2] FMUSP, Disciplina Endocrinol, Lab Hormonios Gen Mol, Unidade Endocrinol Desenvolvimento, Sao Paulo - Brazil
[3] FMUSP, Inst Crianca, Unidade Genet, Sao Paulo - Brazil
[4] FMUSP, Inst Coracao InCor, Lab Genet & Cardiol Mol, Sao Paulo - Brazil
Número total de Afiliações: 4
Tipo de documento: Artigo Científico
Fonte: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; v. 158A, n. 11, p. 2700-2706, NOV 2012.
Citações Web of Science: 24
Resumo

Noonan syndrome (NS) and Noonan-like syndromes (NLS) are autosomal dominant disorders caused by heterozygous mutations in genes of the RAS/MAPK pathway. The aim of the study was to construct specific growth charts for patients with NS and NLS. Anthropometric measurements (mean of 4.3 measurements per patient) were obtained in a mixed cross-sectional and longitudinal mode from 127 NS and 10 NLS patients with mutations identified in PTPN11 (n?=?90), SOS1 (n?=?14), RAF1 (n?=?10), KRAS (n?=?8), BRAF (n?=?11), and SHOC2 (n?=?4) genes. Height, weight, and body mass index (BMI) references were constructed using the lambda, mu, sigma (LMS) method. Patients had birth weight and length within normal ranges for gestational age although a higher preterm frequency (16%) was observed. Mean final heights were 157.4?cm {[}-2.4 standard deviation score (SDS)] and 148.4?cm (-2.2?SDS) for adult males and females, respectively. BMI SDS was lower when compared to Brazilian standards (BMI SDS of -0.9 and -0.5 SDS for males and females, respectively). Patients harboring mutations in RAF1 and SHOC2 gene were shorter than other genotypes, whereas patients with SOS1 and BRAF mutations had more preserved postnatal growth. In addition, patients with RAF1 and BRAF had the highest BMI whereas patients with SHOC2 and KRAS mutations had the lowest BMI. The present study established the first height, weight, and BMI reference curves for NS and NLS patients, based only on patients with a proven molecular cause. These charts can be useful for the clinical follow-up of patients with NS and NLS. (c) 2012 Wiley Periodicals, Inc. (AU)

Processo FAPESP: 07/59555-0 - Estudo da relação genótipo: fenótipo na síndrome de Noonan em pacientes com mutações identificadas nos genes PTPN11, RAF1, SOS1 e KRAS
Beneficiário:Alexsandra Christianne Malaquias de Moura Ribeiro
Linha de fomento: Bolsas no Brasil - Doutorado
Processo FAPESP: 08/50184-2 - Determinantes genéticos na Síndrome de Noonan e síndromes Noonan-like: investigação clínica e molecular
Beneficiário:Débora Romeo Bertola
Linha de fomento: Auxílio à Pesquisa - Regular