Online Mendelian Inheritance in Man

Genetics in Ophthalmology

Nauchno-prakticheskii zhurnal «Medicinskaia genetika» ◽

10.25557/2073-7998.2020.08.44-45 ◽

2020 ◽

pp. 44-45

Author(s):

А.Ю. Рудник ◽

М.А. Федяков ◽

О.С. Глотов

Keyword(s):

Genetic Basis ◽

Genetic Diseases ◽

Mendelian Inheritance ◽

Diagnostic Screening ◽

Online Mendelian Inheritance ◽

Clinical Diagnostic ◽

Omim Database

На сегодняшний день в базе данных Online Mendelian Inheritance in Man (OMIM) описано более 6613 заболеваний и фенотипов, 4241 имеют доказанную генетическую основу, не менее 45% вкючают офтальмологические проявления. В статье приведен ряд клинический примеров пациентов с офтальмологическими симптомами различных генетических заболеваний (алкаптонурия, болезнь Штаргардта, синдром микроцефалии с или без хориоретинопатии; астроцитарная гамартома) с целью демонстрации эффективного клинико-диагностического скрининга генетической патологии у пациентов. So far, the Online Mendelian Inheritance in Man (OMIM) database describes more than 6613 diseases and phenotypes, 4241 have a proven genetic basis, 45% of which are combined with ophthalmological manifestations. The article provides a number of clinical examples of patients with ophthalmological manifestations of various genetic diseases (alcaptonuria, Stadgart ‘s disease, microcephaly syndrome with or without choriretinopathy; Astrocytic gamartoma) to demonstrate effective clinical-diagnostic screening of genetic pathology in patients.

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A Diagnostic Case Study of a Young Man with Russell-Silver Syndrome and Associated Comorbidities

Asian Journal of Interdisciplinary Research ◽

10.34256/ajir1912 ◽

2019 ◽

Vol 2 (1) ◽

pp. 12-29

Author(s):

Boon Hock Lim ◽

Ban Meng Lee ◽

Benjamin Kee Kee Ern Lim ◽

Guo Hui XIE

Keyword(s):

Response To Intervention ◽

Mendelian Inheritance ◽

Diagnostic Information ◽

Online Mendelian Inheritance ◽

Silver Syndrome

This is a case study of a young man diagnosed with Russell-Silver Syndrome or RSS for short (Online Mendelian Inheritance in Man® Classification Number #180860) and associated comorbidities. The aim of this paper is to provide diagnostic information about the syndrome with its comorbidities so that educational therapists and other allied professionals working with such individuals will know what to look out for, especially the RSS-associated comorbidities, and in that way, they become better informed in order to know what offer in their Response to Intervention (RtI) for such individuals with RSS.

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Ambiguity about Splicing Factor 3b Subunit 3 (SF3B3) and Sin3A Associated Protein 130 (SAP130)

Cells ◽

10.3390/cells10030590 ◽

2021 ◽

Vol 10 (3) ◽

pp. 590

Author(s):

Paula I. Metselaar ◽

Celine Hos ◽

Olaf Welting ◽

Jos A. Bosch ◽

Aletta D. Kraneveld ◽

...

Keyword(s):

Immune System ◽

Histone Deacetylase ◽

Mendelian Inheritance ◽

Splicing Factor ◽

Online Mendelian Inheritance ◽

Lectin Receptor ◽

Corepressor Complex ◽

A Subunit

In 2020, three articles were published on a protein that can activate the immune system by binding to macrophage-inducible C-type lectin receptor (Mincle). In the articles, the protein was referred to as ‘SAP130, a subunit of the histone deacetylase complex.’ However, the Mincle ligand the authors aimed to investigate is splicing factor 3b subunit 3 (SF3B3). This splicing factor is unrelated to SAP130 (Sin3A associated protein 130, a subunit of the histone deacetylase-dependent Sin3A corepressor complex). The conclusions in the three articles were formulated for SF3B3, while the researchers used qPCR primers and antibodies against SAP130. We retraced the origins of the ambiguity about the two proteins and found that Online Mendelian Inheritance in Man (OMIM) added a Nature publication on SF3B3 as a reference for Sin3A associated protein 130 in 2016. Subsequently, companies such as Abcam referred to OMIM and the Nature article in their products for both SF3B3 and SAP130. In turn, the mistake by OMIM followed in the persistent and confusing use of ‘SAP130′ (spliceosome-associated protein 130) as an alternative symbol for SF3B3. With this report, we aim to eliminate the persistent confusion and separate the literature regarding the two proteins.

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