A series of four patients with Sotos syndrome harboring novel NSD1 mutations: clinical and molecular description.
Mol Biol Rep
; 51(1): 885, 2024 Aug 03.
Article
em En
| MEDLINE
| ID: mdl-39096335
ABSTRACT
BACKGROUND:
Sotos syndrome is a rare and complex genetic disorder caused by haploinsufficiency of the NSD1 gene. This syndrome is characterized by rapid early childhood growth, distinct facial features, a learning disability, and multiple other developmental and behavioral challenges. METHODS ANDRESULTS:
In this work, we describe four Moroccan patients with variable clinical presentations of Sotos syndrome, in whom we identified four novel NSD1 monoallelic pathogenic variants by conducting targeted Next Generation Sequencing. Genetic testing allowed us to provide a precise medical diagnosis to our patients and tailor interventions to each patient's needs.CONCLUSIONS:
Being the first work describing a series of Moroccan patients with this syndrome, this case series contributes to the growing body of literature on Sotos syndrome and provides valuable insights into the clinical and molecular characteristics of this rare disorder.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Histona-Lisina N-Metiltransferase
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Síndrome de Sotos
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Mutação
Limite:
Adolescent
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
País/Região como assunto:
Africa
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article