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Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions

1
Institute of Human Genetics, University of Ulm, 89081 Ulm, Germany
2
Kliniken des Bezirks Oberbayern (KBO), Children Clinical Center Munich, 81377 Munich, Germany
3
Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff CF14 4XN, UK
4
Department of Neurology, University Hospital Hamburg Eppendorf, 20246 Hamburg, Germany
*
Author to whom correspondence should be addressed.
Academic Editor: Eric Pasmant
Genes 2021, 12(10), 1639; https://doi.org/10.3390/genes12101639
Received: 13 September 2021 / Revised: 30 September 2021 / Accepted: 14 October 2021 / Published: 19 October 2021
(This article belongs to the Section Human Genomics and Genetic Diseases)
Patients with neurofibromatosis type 1 (NF1) and type 1 NF1 deletions often exhibit more severe clinical manifestations than patients with intragenic NF1 gene mutations, including facial dysmorphic features, overgrowth, severe global developmental delay, severe autistic symptoms and considerably reduced cognitive abilities, all of which are detectable from a very young age. Type 1 NF1 deletions encompass 1.4 Mb and are associated with the loss of 14 protein-coding genes, including NF1 and SUZ12. Atypical NF1 deletions, which do not encompass all 14 protein-coding genes located within the type 1 NF1 deletion region, have the potential to contribute to the delineation of the genotype/phenotype relationship in patients with NF1 microdeletions. Here, we review all atypical NF1 deletions reported to date as well as the clinical phenotype observed in the patients concerned. We compare these findings with those of a newly identified atypical NF1 deletion of 698 kb which, in addition to the NF1 gene, includes five genes located centromeric to NF1. The atypical NF1 deletion in this patient does not include the SUZ12 gene but does encompass CRLF3. Comparative analysis of such atypical NF1 deletions suggests that SUZ12 hemizygosity is likely to contribute significantly to the reduced cognitive abilities, severe global developmental delay and facial dysmorphisms observed in patients with type 1 NF1 deletions. View Full-Text
Keywords: neurofibromatosis type 1; NF1; NF1 microdeletions; genotype/phenotype correlations; SUZ12; CRLF3; genodermatosis neurofibromatosis type 1; NF1; NF1 microdeletions; genotype/phenotype correlations; SUZ12; CRLF3; genodermatosis
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MDPI and ACS Style

Kehrer-Sawatzki, H.; Wahlländer, U.; Cooper, D.N.; Mautner, V.-F. Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions. Genes 2021, 12, 1639. https://doi.org/10.3390/genes12101639

AMA Style

Kehrer-Sawatzki H, Wahlländer U, Cooper DN, Mautner V-F. Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions. Genes. 2021; 12(10):1639. https://doi.org/10.3390/genes12101639

Chicago/Turabian Style

Kehrer-Sawatzki, Hildegard, Ute Wahlländer, David N. Cooper, and Victor-Felix Mautner. 2021. "Atypical NF1 Microdeletions: Challenges and Opportunities for Genotype/Phenotype Correlations in Patients with Large NF1 Deletions" Genes 12, no. 10: 1639. https://doi.org/10.3390/genes12101639

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