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

[en] 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.

Disciplines :

Genetics & genetic processes

Author, co-author :

Olivati, Caroline; Rare Rosy Clinic, São Paulo, Brazil ; Fleury Medicina e Saúde, São Paulo, Brazil

Favilla, Bianca Pereira; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil

Freitas, Erika Lopes; Mendelics Análise Genômica, São Paulo, Brazil

Santos, Bibiana; Mendelics Análise Genômica, São Paulo, Brazil

Melaragno, Maria Isabel; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil

Meloni, Vera Ayres; Rare Rosy Clinic, São Paulo, Brazil ; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil

Balbo Piazzon, Flavia ; Université de Liège - ULiège > Département des sciences cliniques

Language :

English

Title :

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

Publication date :

2022

Journal title :

Molecular Genetics and Metabolism Reports

ISSN :

2214-4269

Publisher :

Elsevier Inc., United States

Volume :

Pages :

100879

Peer reviewed :

Peer Reviewed verified by ORBi

Additional URL :

https://api.elsevier.com/content/article/PII:S2214426922000398?httpAccept=text/xml

Funders :

CAPES - Coordenação de Aperfeicoamento de Pessoal de Nível Superior [BR]
FAPESP - Fundação de Amparo à Pesquisa do Estado de São Paulo [BR]

Funding text :

This work was supported by São Paulo Research Foundation (FAPESP), Brazil (grant to M.I.M. #2019/21644-0 ) and Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES).

Available on ORBi :

since 13 February 2024

Statistics

Number of views

1 (1 by ULiège)

Number of downloads

2 (1 by ULiège)

More statistics

Scopus citations^®

Scopus citations^®
without self-citations

Bibliography

Groeneweg, S., et al. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. Lancet Diabetes Endocrinol. vol. 8:7 (2020), 594–605 07 https://doi.org/10.1016/S2213-8587(20)30153-4.
Schwartz, C.E., Stevenson, R.E., The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome. Best Pract. Res. Clin. Endocrinol. Metab. 21:2 (Jun 2007), 307–321, 10.1016/j.beem.2007.03.009.
Felmlee, M.A., Jones, R.S., Rodriguez-Cruz, V., Follman, K.E., Morris, M.E., Monocarboxylate transporters (SLC16): function, regulation, and role in health and disease. Pharmacol. Rev. vol. 72:2 (2020), 466–485 04 https://doi.org/10.1124/pr.119.018762.
Ceballos, A., et al. Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3′-triiodo-L-thyronine. Endocrinology 150:5 (May 2009), 2491–2496, 10.1210/en.2008-1616.
Frints, S.G., et al. MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. Eur. J. Hum. Genet. 16:9 (Sep 2008), 1029–1037, 10.1038/ejhg.2008.66.
Remerand, G., et al. Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations. Dev. Med. Child Neurol. vol. 61:12 (2019), 1439–1447 12 https://doi.org/10.1111/dmcn.14332.
Dumitrescu, A.M., Liao, X.H., Best, T.B., Brockmann, K., Refetoff, S., A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am. J. Hum. Genet. 74:1 (Jan 2004), 168–175, 10.1086/380999.
Herzovich, V., et al. Unexpected peripheral markers of thyroid function in a patient with a novel mutation of the MCT8 thyroid hormone transporter gene. Horm. Res. 67:1 (2007), 1–6, 10.1159/000095805.
Schwartz, C.E., et al. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am. J. Hum. Genet. 77:1 (Jul 2005), 41–53, 10.1086/431313.
Quesada-Espinosa, J.F., et al. First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center. Neurogenetics vol. 22:4 (2021), 343–346 10 https://doi.org/10.1007/s10048-021-00660-7.
S. Kersseboom et al., “Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution,” Mol. Endocrinol., vol. 27, 5, pp. 801–813, doi: https://doi.org/10.1210/me.2012-1356.
Favilla, B.P., et al. Spread of X-chromosome inactivation into autosomal regions in patients with unbalanced X-autosome translocations and its phenotypic effects. Am. J. Med. Genet. A vol. 185:8 (2021), 2295–2305 08 https://doi.org/10.1002/ajmg.a.62228.
Papadimitriou, A., et al. A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay. Pediatrics 121:1 (Jan 2008), e199–e202, 10.1542/peds.2007-1247.
Chevarin, M., et al. Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. J. Med. Genet. vol. 57:7 (2020), 466–474 07 https://doi.org/10.1136/jmedgenet-2019-106425.
Bolduc, V., et al. No evidence that skewing of X chromosome inactivation patterns is transmitted to offspring in humans. J. Clin. Invest. 118:1 (Jan 2008), 333–341, 10.1172/JCI33166.
Shvetsova, E., et al. Skewed X-inactivation is common in the general female population. Eur. J. Hum. Genet. vol. 27:3 (2019), 455–465 03 https://doi.org/10.1038/s41431-018-0291-3.
Mengel-From, J., et al. Skewness of X-chromosome inactivation increases with age and varies across birth cohorts in elderly Danish women. Sci. Rep., vol. 11(1), 2021, 4326 02 22 https://doi.org/10.1038/s41598-021-83702-2.
Dardik, R., et al. Molecular Mechanisms of Skewed X-Chromosome Inactivation in Female Hemophilia Patients-Lessons from Wide Genome Analyses. Int. J. Mol. Sci., vol. 22(16), Aug 23 2021, 10.3390/ijms22169074.
Viggiano, E., Picillo, E., Ergoli, M., Cirillo, A., Del Gaudio, S., Politano, L., Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy. J. Gene Med., vol. 19(4), Apr 2017, 10.1002/jgm.2952.