First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642C>T (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis

First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642C>T (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis

Bloom syndrome (BS) is an exceptionally rare hereditary disease. Typical manifestations of BS usually include growth deficiency, a characteristic facial appearance, skin hypersensitivity to ultraviolet irradiation, and a strong predisposition to early-onset cancers. We have previously described a re...

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Bibliographic Details
Published in:Molecular syndromology Vol. 8; no. 2; pp. 103 - 106
Main Authors: Suspitsin, Evgeny N., Sibgatullina, Farida I., Lyazina, Lydia V., Imyanitov, Evgeny N.
Format: Journal Article
Language:English
Published: Basel, Switzerland S. Karger AG 01-03-2017
Subjects:
Novel Insights from Clinical Practice
Short stature
Photosensitivity
Bloom syndrome
Recurrent mutations
Immune deficiency
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Summary:Bloom syndrome (BS) is an exceptionally rare hereditary disease. Typical manifestations of BS usually include growth deficiency, a characteristic facial appearance, skin hypersensitivity to ultraviolet irradiation, and a strong predisposition to early-onset cancers. We have previously described a recurrent BLM c.1642C>T (p.Q548X) mutation, which is present in heterozygous state in 0.2-0.6% of individuals of Slavic origin. Despite the high occurrence of this founder allele, BS has not yet been described in patients of Slavic ethnicity. Here, we present 2 cases of BS, which were missed by standard genetic counseling and were eventually identified entirely due to chance. Our patients show the need for further investigations to confirm whether the atypical appearance of BS is indeed characteristic for biallelic carriers of the c.1642C>T (p.Q548X) allele and whether the absence of skin manifestations contributes to the underdiagnosis of the disease in Russia. Therefore, we suggest that all Slavic patients with only one single clinical feature of BS are to be screened for this allele and subjected to further analysis wherever appropriate. In addition to identifying new BS patients, this effort will help to clarify the frequency of “atypical BS” with incomplete phenotypic manifestations.
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ISSN:1661-8769
1661-8777
DOI:10.1159/000454820