Comment on Herring et al. The Use of Retardation in FRAXA, FMRP, FMR1 and Other Designations. Cells 2022, 11, 1044 Comment

Article Cell Biology

The Use of Retardation in FRAXA, FMRP, FMR1 and Other Designations

Jonathan Herring et al.

Summary: This article discusses the stigmatization, inaccuracy, and breadth of fragile X syndrome associated with the use of the term "retardation" in gene and protein naming. It proposes the adoption of a more inclusive terminology and suggests approaching the HGNC for new naming guidelines.

CELLS (2022)

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Article Genetics & Heredity

The risks of using unapproved gene symbols

Bryony Braschi et al.

Summary: Using approved nomenclature is crucial for effective scientific communication, especially in discussing clinically relevant genes. Failure to use HGNC-approved symbols in publications can lead to confusion between unrelated human genes in the literature. Authors can take steps to ensure they use approved nomenclature and referencing HGNC IDs can help remove ambiguity when referring to genes previously published with confusing alias symbols.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

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Article Genetics & Heredity

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

Norine Voisin et al.

Summary: The study identified KINSSHIP syndrome associated with specific variants in the degron of AFF3, partially overlapping with the AFF4-associated CHOPS syndrome. Knockout or knockin models of AFF3 gene variants in mice and zebrafish showed similar features, suggesting a unique contribution of AFF3 to proper development.

AMERICAN JOURNAL OF HUMAN GENETICS (2021)

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Article Genetics & Heredity

Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus

Ada Hamosh et al.

Summary: Victor McKusick's groundbreaking work on Mendelian Inheritance in Man (MIM) has become an indispensable resource in the field of genetics. His foresight in maintaining data in a computer-readable format and giving phenotypes and genes individual MIM numbers has greatly contributed to the long-term utility and flexibility of the catalog. The Online Mendelian Inheritance in Man (OMIM) now attracts over 20,000 unique users daily from every country in the world.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

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Editorial Material Genetics & Heredity