Allan-Herndon-Dudley syndrome in a female patient and related mechanisms

Autor(es)

Olivati, Caroline ; Favilla, Bianca Pereira ; Freitas, Erika Lopes ; Santos, Bibiana ; Melaragno, Maria Isabel ; Meloni, Vera Ayres ; Piazzon, Flavia

• Tipo de documento: Artigo Científico
• Fonte: MOLECULAR GENETICS AND METABOLISM REPORTS; v. 31, p. 4-pg., 2022-05-07.

Resumo

Allan-Herndon-Dudley syndrome (AHDS) is characterized by neuropsychomotor developmental delay/intellectual disability, neurological impairment with a movement disorder, and an abnormal thyroid hormone profile. This disease is an X-linked disorder that mainly affects men. We described a female patient with a de novo variant in the SLC16A2 gene, a milder AHDS phenotype, and a skewed X chromosome inactivation profile. We discuss the mechanisms associated with the expression of the phenotypic characteristics in female patients, including SLC16A2 gene variants and cytogenomic alterations, as well as preferential inactivation of the normal X chromosome. (AU)

• Processo FAPESP: 19/21644-0 - Impacto de variantes genéticas na estabilidade do genoma e seus efeitos no fenótipo
• Beneficiário: Maria Isabel de Souza Aranha Melaragno
• Modalidade de apoio: Auxílio à Pesquisa - Temático