Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome:Five Danish patients with novel variants in AHDC1
| Autor: | Brian Nauheimer Andersen, Trine Bjørg Hammer, Niels Ove Illum, Dorte L Lildballe, Naja Becher, Lotte Andreasen, Mikkel Ø Andersen, Pernille Axel Gregersen, Jens Erik K Nielsen, Mette B Thorup, Christina Fagerberg, Emilie Erbs, Anders Bojesen, Charlotte Brasch-Andersen, Monica Zilmer, Soren L Faergeman, Maria Rasmussen |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Adult
Foot Deformities Male AHDC1 Adolescent Developmental Disabilities Biology Frameshift mutation Craniofacial Abnormalities Loss of heterozygosity Young Adult Neurodevelopmental disorder Intellectual disability Genetics medicine Humans Frameshift Mutation Genetics (clinical) Exome sequencing Genetic heterogeneity Whole exome sequencing Syndrome General Medicine medicine.disease Phenotype Hypotonia DNA-Binding Proteins Dysmorphism Muscle Hypotonia Female medicine.symptom Xia-gibbs syndrome Reverse phenotyping |
| Zdroj: | Faergeman, S L, Bojesen, A B, Rasmussen, M, Becher, N, Andreasen, L, Andersen, B N, Erbs, E, Lildballe, D L, Nielsen, J E K, Zilmer, M, Hammer, T B, Andersen, M, Brasch-Andersen, C, Fagerberg, C R, Illum, N O, Thorup, M B & Gregersen, P A 2021, ' Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome : Five Danish patients with novel variants in AHDC1 ', European Journal of Medical Genetics, vol. 64, no. 9, 104280 . https://doi.org/10.1016/j.ejmg.2021.104280 |
| Popis: | Xia-Gibbs syndrome (XGS) is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, obstructive sleep apnoea and mild facial dysmorphism. Heterozygosity for loss-of-function variants in AHDC1, encoding the AT-hook DNA binding motif containing protein 1, were discovered in 2014 as the likely genetic cause of Xia-Gibbs syndrome. We present five patients with Xia-Gibbs syndrome caused by previously unreported variants in AHDC1. Two of the patients share a frameshift variant: c.2849del (p.(Pro950Argfs*192)) in AHDC1. Despite sharing this variant, the two patients show remarkable phenotypic differences underscoring the clinical heterogeneity of Xia-Gibbs syndrome. In addition, we present a case of Xia-Gibbs syndrome caused by mosaicism for an AHDC1 variant. |
| Databáze: | OpenAIRE |
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