Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders

Three pairs of unrelated patients presented recurrent variants in the <i>PTPN11</i> gene, partially concordant in phenotypic correlation among the pairs but not fully concordant compared to previously described cases in the literature. Undescribed features in this group included myopathy and megacolon in a patient with Noonan syndrome-like, hypogonadotropic hypogonadism, and azoospermia in a patient with Noonan syndrome-like with loose anagen hair, and schizophrenia in a patient with Costello syndrome. One patient with Noonan syndrome had a novel variant of the <i>A2ML1</i> gene (c.1829G>A), but the variant was strictly of uncertain significance, while c.2033G>A in the <i>LZTR1</i> gene and c.1A>G in the <i>NF1</i> gene are variants for the first time associated with features of Noonan syndrome.

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Publication Details

Journal
Molecular Syndromology
Published
2025-03-24
DOI
https://doi.org/10.1159/000545410
Primary Topic
Protein Tyrosine Phosphatases
Type
article
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article

Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders

Antonia Paula Marques‐de‐Faria, Maria Isabel Melaragno, Vera Lúcia Gil‐da‐Silva‐Lopes, Alexander A.L. Jorge et al.
Molecular Syndromology
Protein Tyrosine Phosphatases
article

Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders

Antonia Paula Marques‐de‐Faria, Maria Isabel Melaragno, Vera Lúcia Gil‐da‐Silva‐Lopes, Alexander A.L. Jorge, Gil Guerra‐Júnior, Carlos Eduardo Steiner, Mara Sanches Guaragna, Barbara Corso, Ruy Pires de Oliveira Sobrinho, Ana Mondadori dos Santos, Giovana Manilli Toccoli, Luise Longo Angeloni, Henrique Garcia Silveira, Andréa Trevas Maciel Guerra, Elisângela Pereira de Souza Quedas, Karina Montemor Klegen de Oliveira, Luiza de Oliveira Simões
article en

Abstract

Three pairs of unrelated patients presented recurrent variants in the <i>PTPN11</i> gene, partially concordant in phenotypic correlation among the pairs but not fully concordant compared to previously described cases in the literature. Undescribed features in this group included myopathy and megacolon in a patient with Noonan syndrome-like, hypogonadotropic hypogonadism, and azoospermia in a patient with Noonan syndrome-like with loose anagen hair, and schizophrenia in a patient with Costello syndrome. One patient with Noonan syndrome had a novel variant of the <i>A2ML1</i> gene (c.1829G>A), but the variant was strictly of uncertain significance, while c.2033G>A in the <i>LZTR1</i> gene and c.1A>G in the <i>NF1</i> gene are variants for the first time associated with features of Noonan syndrome.

Molecular SyndromologyVol. 17(1)
Universidade Estadual de Campinas (UNICAMP) (BR), Faculdade São Leopoldo Mandic (BR), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (BR), Universidade Federal de São Paulo (BR)
Openalex Percentile: Top 95%
Protein Tyrosine Phosphatases
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