Phenotypic distinctions of BLM- and RMI1-associated Bloom syndrome Article Swipe

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Ipek Ilgin Gönenç , Nursel Elçioğlu , Carolina Martínez Grijalva , Seda Aras , Nadine Großmann , Inka Praulich , Janine Altmüller , Silke Kaulfuß , Yun Li , Peter Nürnberg , Peter Burfeind , Gökhan Yiğit , Bernd Wollnik ·

YOU? · · 2021 · Open Access · · DOI: https://doi.org/10.1101/2021.11.02.21265560

Bloom syndrome (BS) is an autosomal recessive disease with characteristic clinical features of primary microcephaly, growth deficiency, skin lesions, cancer predisposition, and immunodeficiency. Here, we report the clinical and molecular findings of eight patients from six families diagnosed with BS. We identified causative mutations in all families, three different homozygous mutations in BLM and one causative homozygous mutation in RMI1 . The homozygous c.581_582delTT (p.Phe194*) and c.3164G>C (p.Cys1055Ser) mutations in BLM have already been reported in BS patients, while the c.572_573delGA (p.Arg191Lysfs*4) is novel. Interestingly, whole-exome sequencing revealed a homozygous loss-of-function mutation in RMI1 in two BS patients of a consanguineous Turkish family. All BS patients had primary microcephaly, intrauterine growth delay, and short stature, presenting the phenotypic hallmarks of BS. However, a narrow face, skin lesions, and upper airway infections were observed only in some of the patients. Overall, patients with homozygous BLM mutations had a more severe BS phenotype compared to patients carrying the homozygous RMI1 mutation, especially in terms of immunodeficiency and associated recurrent infections. Low-level immunoglobulins were observed in all BLM -mutated patients, emphasizing the immunodeficiency profile of the disease, which should be considered as an important phenotypic characteristic of BS, especially in the current Covid-19 pandemic era.

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Bloom syndrome Microcephaly Immunodeficiency Biology Mutation Genetics Phenotype Short stature Exome sequencing Gene Immune system Endocrinology RNA Helicase

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Type: preprint
Language: en
Landing Page: https://doi.org/10.1101/2021.11.02.21265560
PDF: https://www.medrxiv.org/content/medrxiv/early/2021/11/10/2021.11.02.21265560.full.pdf
OA Status: green
References: 43
Related Works: 10
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DOI: https://doi.org/10.1101/2021.11.02.21265560

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Title: Phenotypic distinctions of BLM- and RMI1-associated Bloom syndrome

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Type: preprint

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Language: en

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Publication year: 2021

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Publication date: 2021-11-10

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Authors: Ipek Ilgin Gönenç, Nursel Elçioğlu, Carolina Martínez Grijalva, Seda Aras, Nadine Großmann, Inka Praulich, Janine Altmüller, Silke Kaulfuß, Yun Li, Peter Nürnberg, Peter Burfeind, Gökhan Yiğit, Bernd Wollnik

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Landing page: https://doi.org/10.1101/2021.11.02.21265560

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Concepts: Bloom syndrome, Microcephaly, Immunodeficiency, Biology, Mutation, Genetics, Phenotype, Short stature, Exome sequencing, Gene, Immune system, Endocrinology, RNA, Helicase

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