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

Autor:	Olivati C; Rare Rosy Clinic, São Paulo, Brazil.; Fleury Medicina e Saúde, São Paulo, Brazil., Favilla BP; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil., Freitas EL; Mendelics Análise Genômica, São Paulo, Brazil., Santos B; Mendelics Análise Genômica, São Paulo, Brazil., Melaragno MI; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil., Meloni VA; Rare Rosy Clinic, São Paulo, Brazil.; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil., Piazzon F; Rare Rosy Clinic, São Paulo, Brazil.; Neuromuscular Reference Center, Department of Pediatrics, University Hospital Liège & University of Liège, Belgium.; Neurometabolic Unit, University of São Paulo, São Paulo, Brazil.
Jazyk:	angličtina
Zdroj:	Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2022 May 07; Vol. 31, pp. 100879. Date of Electronic Publication: 2022 May 07 (Print Publication: 2022).
DOI:	10.1016/j.ymgmr.2022.100879
Abstrakt:	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. Competing Interests: The authors declare no conflict of interest. (© 2022 The Authors.)
Databáze:	MEDLINE
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