Phenotypic spectrum of BLM‐ and RMI1‐related Bloom syndrome
2022 | journal article; research paper. A publication with affiliation to the University of Göttingen.
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Phenotypic spectrum of BLM‐ and RMI1‐related Bloom syndrome
Gönenc, I. I.; Elcioglu, N. H.; Martinez Grijalva, C.; Aras, S.; Großmann, N.; Praulich, I. & Altmüller, J. et al. (2022)
Clinical Genetics, 101(5-6) pp. 559-564. DOI: https://doi.org/10.1111/cge.14125
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- Authors
- Gönenc, Ipek Ilgin; Elcioglu, Nursel H.; Martinez Grijalva, Carolina; Aras, Seda; Großmann, Nadine; Praulich, Inka; Altmüller, Janine; Kaulfuß, Silke; Li, Yun; Nürnberg, Peter; Wollnik, Bernd ; Burfeind, Peter; Yigit, Gökhan
- Abstract
- Abstract Bloom syndrome (BS) is an autosomal recessive disorder with characteristic clinical features of primary microcephaly, growth deficiency, cancer predisposition, and immunodeficiency. Here, we report the clinical and molecular findings of eight patients from six families diagnosed with BS. We identified causative pathogenic variants in all families including three different variants in BLM and one variant in RMI1. The homozygous c.581_582delTT;p.Phe194 and c.3164G>C;p.Cys1055Ser variants in BLM have already been reported in BS patients, while the c.572_573delGA;p.Arg191Lysfs 4 variant is novel. Additionally, we present the detailed clinical characteristics of two cases with BS in which we previously identified the biallelic loss‐of‐function variant c.1255_1259delAAGAA;p.Lys419Leufs 5 in RMI1. All BS patients had primary microcephaly, intrauterine growth delay, and short stature, presenting the phenotypic hallmarks of BS. However, skin lesions and upper airway infections were observed only in some of the patients. Overall, patients with pathogenic BLM variants had a more severe BS phenotype compared to patients carrying the pathogenic variants in RMI1, especially in terms of immunodeficiency, which should be considered as one of the most important phenotypic characteristics of BS.
Phenotypic features of Bloom syndrome differ in severity between patients carrying pathogenic variants in BLM and RMI1. image - Issue Date
- 2022
- Publisher
- Blackwell Publishing Ltd
- Journal
- Clinical Genetics
- Project
- EXC 2067: Multiscale Bioimaging
- Working Group
- RG Wollnik
- ISSN
- 0009-9163
- eISSN
- 1399-0004
- Language
- English
- Sponsor
- Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) under Research Group FOR 2800 “Chromosome Instability: Cross‐talk of DNA replication stress and mitotic dysfunction”, SP5 and SPZ
German Center for Cardiovascular Research (DZHK, partner site Göttingen)
Germany's Excellence Strategy, Cluster of Excellence "Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells" (MBExC; EXC 2067/1‐390729940)