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

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

doi:10.1016/j.ymgmr.2022.100879

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

Mol Genet Metab Rep. 2022 May 7:31:100879. doi: 10.1016/j.ymgmr.2022.100879. eCollection 2022 Jun.

Authors

Caroline Olivati^{1

2}, Bianca Pereira Favilla³, Erika Lopes Freitas⁴, Bibiana Santos⁴, Maria Isabel Melaragno³, Vera Ayres Meloni^{1

3}, Flavia Piazzon^{1

5

6}

Affiliations

¹ Rare Rosy Clinic, São Paulo, Brazil.
² Fleury Medicina e Saúde, São Paulo, Brazil.
³ Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.
⁴ Mendelics Análise Genômica, São Paulo, Brazil.
⁵ Neuromuscular Reference Center, Department of Pediatrics, University Hospital Liège & University of Liège, Belgium.
⁶ Neurometabolic Unit, University of São Paulo, São Paulo, Brazil.

Abstract

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.

Keywords: Allan-Herndon-Dudley syndrome; SLC16A2 gene; X-chromosome inactivation.

Publication types

Case Reports