Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Olivati, Caroline, Favilla, Bianca Pereira, Freitas, Erika Lopes, Santos, Bibiana, Melaragno, Maria Isabel, Meloni, Vera Ayres, Piazzon, Flavia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9248228/
https://www.ncbi.nlm.nih.gov/pubmed/35782622
http://dx.doi.org/10.1016/j.ymgmr.2022.100879
_version_ 1784739327267307520
author Olivati, Caroline
Favilla, Bianca Pereira
Freitas, Erika Lopes
Santos, Bibiana
Melaragno, Maria Isabel
Meloni, Vera Ayres
Piazzon, Flavia
author_facet Olivati, Caroline
Favilla, Bianca Pereira
Freitas, Erika Lopes
Santos, Bibiana
Melaragno, Maria Isabel
Meloni, Vera Ayres
Piazzon, Flavia
author_sort Olivati, Caroline
collection PubMed
description 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.
format Online
Article
Text
id pubmed-9248228
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher Elsevier
record_format MEDLINE/PubMed
spelling pubmed-92482282022-07-02 Allan-Herndon-Dudley syndrome in a female patient and related mechanisms Olivati, Caroline Favilla, Bianca Pereira Freitas, Erika Lopes Santos, Bibiana Melaragno, Maria Isabel Meloni, Vera Ayres Piazzon, Flavia Mol Genet Metab Rep Case Report 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. Elsevier 2022-05-07 /pmc/articles/PMC9248228/ /pubmed/35782622 http://dx.doi.org/10.1016/j.ymgmr.2022.100879 Text en © 2022 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Olivati, Caroline
Favilla, Bianca Pereira
Freitas, Erika Lopes
Santos, Bibiana
Melaragno, Maria Isabel
Meloni, Vera Ayres
Piazzon, Flavia
Allan-Herndon-Dudley syndrome in a female patient and related mechanisms
title Allan-Herndon-Dudley syndrome in a female patient and related mechanisms
title_full Allan-Herndon-Dudley syndrome in a female patient and related mechanisms
title_fullStr Allan-Herndon-Dudley syndrome in a female patient and related mechanisms
title_full_unstemmed Allan-Herndon-Dudley syndrome in a female patient and related mechanisms
title_short Allan-Herndon-Dudley syndrome in a female patient and related mechanisms
title_sort allan-herndon-dudley syndrome in a female patient and related mechanisms
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9248228/
https://www.ncbi.nlm.nih.gov/pubmed/35782622
http://dx.doi.org/10.1016/j.ymgmr.2022.100879
work_keys_str_mv AT olivaticaroline allanherndondudleysyndromeinafemalepatientandrelatedmechanisms
AT favillabiancapereira allanherndondudleysyndromeinafemalepatientandrelatedmechanisms
AT freitaserikalopes allanherndondudleysyndromeinafemalepatientandrelatedmechanisms
AT santosbibiana allanherndondudleysyndromeinafemalepatientandrelatedmechanisms
AT melaragnomariaisabel allanherndondudleysyndromeinafemalepatientandrelatedmechanisms
AT meloniveraayres allanherndondudleysyndromeinafemalepatientandrelatedmechanisms
AT piazzonflavia allanherndondudleysyndromeinafemalepatientandrelatedmechanisms