| Autor: |
Caroline Olivati, Bianca Pereira Favilla, Erika Lopes Freitas, Bibiana Santos, Maria Isabel Melaragno, Vera Ayres Meloni, Flavia Piazzon |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100879- (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2214-4269 |
| DOI: |
10.1016/j.ymgmr.2022.100879 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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