Noonan syndrome patients beyond the obvious phenotype: A potential unfavorable metabolic profile

Noonan syndrome (NS) and NS related disorders (NRD) are frequent monogenic diseases. Pathogenic variants in PTPN11 are observed in approximately 50% of these NS patients. Several pleiotropic phenotypes have previously been described in this condition. This study aimed at characterizing glucose and l...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2021-03, Vol.185 (3), p.774-780
Main Authors: Noronha, Renata M., Villares, Sandra M F, Torres, Natalia, Quedas, Elisangela P S, Homma, Thais Kataoka, Albuquerque, Edoarda V A, Moraes, Michelle B, Funari, Mariana F A, Bertola, Debora R, Jorge, Alexander A L, Malaquias, Alexsandra C
Format: Article
Language:English
Subjects:
Blood glucose
Children
Cholesterol
Genotype & phenotype
Glucose
Glucose metabolism
Glucose tolerance
High density lipoprotein
Insulin
Metabolism
Mutation
Noonan syndrome
Noonan's syndrome
Phenotypes
PTPN11
RASopathy
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Summary:Noonan syndrome (NS) and NS related disorders (NRD) are frequent monogenic diseases. Pathogenic variants in PTPN11 are observed in approximately 50% of these NS patients. Several pleiotropic phenotypes have previously been described in this condition. This study aimed at characterizing glucose and lipid profiles in patients with NS/NRD. We assessed fasting blood glucose, insulin, cholesterol (total and fractions), and triglyceride (TG) levels in 112 prepubertal children and 73 adults. Additionally, an oral glucose tolerance test (OGTT) was performed in 40 children and 54 adults. Data were analyzed between age groups according to the presence (+) or absence (−) of PTPN11 mutation. Prepubertal patients with NS/NRD were also compared with a control group. Despite the lean phenotype of children with NS/NRD, they presented an increased frequency of low HDL‐cholesterol (63% in PTPN11+, 59% in PTPN11‐ and 16% in control, p
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.62039