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

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 patien...

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Bibliographic Details
Published in:Molecular genetics and metabolism reports 2022-06, Vol.31, p.100879, Article 100879
Main Authors: Olivati, Caroline, Favilla, Bianca Pereira, Freitas, Erika Lopes, Santos, Bibiana, Melaragno, Maria Isabel, Meloni, Vera Ayres, Piazzon, Flavia
Format: Article
Language:English
Subjects:
Allan-Herndon-Dudley syndrome
Case Report
Endocrinology
Genetics
Genetics & genetic processes
Génétique & processus génétiques
Life sciences
Molecular Biology
Sciences du vivant
SLC16A2 gene
X-chromosome inactivation
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Summary: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.
ISSN:2214-4269
2214-4269
DOI:10.1016/j.ymgmr.2022.100879