A paradoxical genotype-phenotype relationship: Low level of GOSR2 translation from a non-AUG start codon in a family with profound hearing loss

Hum Mol Genet. 2023 Jul 4;32(14):2265-2268. doi: 10.1093/hmg/ddad066.

Authors

Affiliations

¹ Department of Genome Sciences and Department of Medicine, University of Washington, Seattle, WA, USA.
² Department of Human Molecular Genetics and Biochemistry, Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.
³ Hereditary Research Laboratory, Department of Biology, Bethlehem University, Bethlehem, Palestine.

No abstract available

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Codon, Initiator / genetics
Genotype
Hearing Loss* / genetics
Humans
Peptide Chain Initiation, Translational / genetics
Phenotype
Protein Biosynthesis*
Qb-SNARE Proteins / genetics

Substances

Codon, Initiator
GOSR2 protein, human
Qb-SNARE Proteins

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