Cornea Arcus and Dyslipidemia in Unrelated Adults With Monoallelic Germline Variants in the Glucokinase Regulator Gene

TY - JOUR

T1 - Cornea Arcus and Dyslipidemia in Unrelated Adults With Monoallelic Germline Variants in the Glucokinase Regulator Gene

AU - Olarewaju, Bukola A.

AU - Trujillo, Ileana

AU - Osundiji, Mayowa A.

N1 - Publisher Copyright: © The Author(s) 2026. This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).

PY - 2026/5

Y1 - 2026/5

N2 - Variants in the Glucokinase Regulator (GCKR) gene are increasingly being detected with growing applications of genomic sequencing technologies. Despite the crucial roles of the GCKR gene in energy homeostasis, the clinical applications of GCKR variants are currently limited. We observed that a large proportion of GCKR variants that are available in gnomAD database (https://gnomad.broadinstitute.org/) lacked adequate evidence of pathogenicity or benign impact. We highlight the clinical need for an improved understanding of GCKR variants by presenting 2 compelling cases of unrelated families (3 individuals in total) who harbor rare GCKR variants in the context of cornea arcus and hyperlipidemia. Our observations underscore the burgeoning need for functional as well as family segregation studies to facilitate the clinical applications of GCKR variants.

AB - Variants in the Glucokinase Regulator (GCKR) gene are increasingly being detected with growing applications of genomic sequencing technologies. Despite the crucial roles of the GCKR gene in energy homeostasis, the clinical applications of GCKR variants are currently limited. We observed that a large proportion of GCKR variants that are available in gnomAD database (https://gnomad.broadinstitute.org/) lacked adequate evidence of pathogenicity or benign impact. We highlight the clinical need for an improved understanding of GCKR variants by presenting 2 compelling cases of unrelated families (3 individuals in total) who harbor rare GCKR variants in the context of cornea arcus and hyperlipidemia. Our observations underscore the burgeoning need for functional as well as family segregation studies to facilitate the clinical applications of GCKR variants.

KW - Cornea Arcus and Dyslipidemia in Unrelated Adults with Monoallelic Germline Variants in theGlucokinase RegulatorGene

KW - dyslipidemia

KW - GCKR

KW - GKRP

KW - hyperlipidemia

KW - variants

UR - https://www.scopus.com/pages/publications/105037911688

U2 - 10.1177/11795514261441435

DO - 10.1177/11795514261441435

M3 - Article

C2 - 42131858

AN - SCOPUS:105037911688

SN - 1179-5514

VL - 19

JO - Clinical Medicine Insights: Endocrinology and Diabetes

JF - Clinical Medicine Insights: Endocrinology and Diabetes

ER -