Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development?

Blum K, Krumbiegel M, Kraus C, Reis A, Hüffmeier U (2023)

Publication Type: Journal article

Publication year: 2023

Journal

European Journal of Medical Genetics Elsevier

Book Volume: 66

Article Number: 104717

Journal Issue: 4

DOI: 10.1016/j.ejmg.2023.104717

Abstract

We report on a female individual with feeding difficulties, constipation, poor overall growth, periventricular lesions resembling gliosis in brain MRI, recurrent otitis media with palsy of facial nerve, distinct facial features, and pronounced delay in speech development. The latter was the most prominent feature. Molecular karyotyping revealed a heterozygous de novo deletion of 4.353 Mb at chromosome 12q21.33q22. This report expands the number of described individuals with heterozygous deletions at 12q21.33, their clinical spectrum and highlights the clinical variability, even in individuals with deletion of the same genes. Furthermore, our findings indicate a role of BTG1 (OMIM *109580) in speech development.

Authors with CRIS profile

Katalin Blum Institute of Human Genetics Mandy Krumbiegel Institute of Human Genetics André Wiesmann da Silva Reis Lehrstuhl für Humangenetik Ulrike Hüffmeier Lehrstuhl für Humangenetik

How to cite

APA:

Blum, K., Krumbiegel, M., Kraus, C., Reis, A., & Hüffmeier, U. (2023). Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development? European Journal of Medical Genetics, 66(4). https://doi.org/10.1016/j.ejmg.2023.104717

MLA:

Blum, Katalin, et al. "Expanding the phenotype of 12q21 deletions: A role of BTG1 in speech development?" European Journal of Medical Genetics 66.4 (2023).

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