| Full text | |
| Author(s): |
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]
Total Authors: 7
|
| Affiliation: | [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
Total Affiliations: 4
|
| Document type: | Journal article |
| Source: | AMERICAN JOURNAL OF MEDICAL GENETICS PART A; v. 158A, n. 11, p. 2700-2706, NOV 2012. |
| Web of Science Citations: | 24 |
| Abstract | |
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) | |
| FAPESP's process: | 07/59555-0 - Estudo da relação genótipo: fenótipo na síndrome de Noonan em pacientes com mutações identificadas nos genes PTPN11, RAF1, SOS1 e KRAS |
| Grantee: | Alexsandra Christianne Malaquias de Moura Ribeiro |
| Support Opportunities: | Scholarships in Brazil - Doctorate |
| FAPESP's process: | 08/50184-2 - Determinantes geneticos na sindrome de noonan e sindromes noonan-like: investigacao clinica e molecular. |
| Grantee: | Débora Romeo Bertola |
| Support Opportunities: | Regular Research Grants |