Universität zu Köln

Goenenc, Ipek Ilgin, Elcioglu, Nursel H., Grijalva, Carolina Martinez, Aras, Seda, Grossmann, Nadine, Praulich, Inka, Altmueller, Janine, Kaulfuss, Silke, Li, Yun, Nuernberg, Peter, Burfeind, Peter, Yigit, Goekhan and Wollnik, Bernd ORCID: 0000-0003-2589-0364 (2022). Phenotypic spectrum of BLM- and RMI1-related Bloom syndrome. Clin. Genet., 101 (5-6). S. 559 - 565. HOBOKEN: WILEY. ISSN 1399-0004

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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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Goenenc, Ipek Ilgin UNSPECIFIED UNSPECIFIED UNSPECIFIED Elcioglu, Nursel H. UNSPECIFIED UNSPECIFIED UNSPECIFIED Grijalva, Carolina Martinez UNSPECIFIED UNSPECIFIED UNSPECIFIED Aras, Seda UNSPECIFIED UNSPECIFIED UNSPECIFIED Grossmann, Nadine UNSPECIFIED UNSPECIFIED UNSPECIFIED Praulich, Inka UNSPECIFIED UNSPECIFIED UNSPECIFIED Altmueller, Janine UNSPECIFIED UNSPECIFIED UNSPECIFIED Kaulfuss, Silke UNSPECIFIED UNSPECIFIED UNSPECIFIED Li, Yun UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Burfeind, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Yigit, Goekhan UNSPECIFIED UNSPECIFIED UNSPECIFIED Wollnik, Bernd UNSPECIFIED orcid.org/0000-0003-2589-0364 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-691569
DOI:	10.1111/cge.14125
Journal or Publication Title:	Clin. Genet.
Volume:	101
Number:	5-6
Page Range:	S. 559 - 565
Date:	2022
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1399-0004
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language ESSENTIAL COMPONENT; GENE; MUTATIONS; PROTEIN Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/69156