| Full text | |
| Author(s): |
Olivati, Caroline
;
Favilla, Bianca Pereira
;
Freitas, Erika Lopes
;
Santos, Bibiana
;
Melaragno, Maria Isabel
;
Meloni, Vera Ayres
;
Piazzon, Flavia
Total Authors: 7
|
| Document type: | Journal article |
| Source: | MOLECULAR GENETICS AND METABOLISM REPORTS; v. 31, p. 4-pg., 2022-05-07. |
| 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. (AU) | |
| FAPESP's process: | 19/21644-0 - Impact of genetic variants on genomic stability and their effects on the phenotype |
| Grantee: | Maria Isabel de Souza Aranha Melaragno |
| Support Opportunities: | Research Projects - Thematic Grants |