CC BY 4.0 · Glob Med Genet 2022; 09(02): 175-178
DOI: 10.1055/s-0041-1740468
Case Report

A Case of Geroderma Osteodysplasticum Syndrome: Unique Clinical Findings

Maha Alotaibi
1   Department of Genetics, Children's Hospital, King Saud Medical City, Riyadh, Saudi Arabia
,
Deema Aldhubaiban
2   Department of Periodontology, King Saud Medical City, Riyadh, Saudi Arabia
,
Ahmed Alasmari
3   Department of Orthodontics, King Saud Medical City, Riyadh, Saudi Arabia
,
Leena Alotaibi
4   Collage of Medicine, King Saud bin Abdul-Aziz University for Health Sciences, Riyadh, Saudi Arabia
› Author Affiliations

Abstract

Geroderma osteodysplasticum (GO; MIM 231070) is characterized by a typical progeroid facial appearance, wrinkled, lax skin, joint laxity, skeletal abnormalities with variable degree of osteopenia, frequent fractures, scoliosis, bowed long bones, vertebral collapse, and hyperextensible fingers. The disorder results from mutations in the GORAB—golgin, RAB6 interacting. This gene encodes a member of the golgin family, a group of coiled-coil proteins on golgin that maps to chromosome 1q24. The encoded protein has a function in the secretory pathway, was identified by terminal kinase-like protein, and thus, it may function in mitosis. Mutations in this gene have been associated with GO. Herein, we describe the clinical presentation of one young male patient from related Saudi parents. Mutations, a homozygous frameshift mutation (c.306dup p.(pro 103 Thrfs*20)). Interestingly, phenotypic variability was observed in this patient with GO features that were more atypical than the cases reported in the literature as he looks tall stature where most of the cases reported were short and arachnodactyly fingers which mimic other syndromes.



Publication History

Received: 15 October 2021

Accepted: 22 October 2021

Article published online:
17 December 2021

© 2021. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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