Osteogenesis Imperfecta Type III/Ehlers-Danlos Overlap Syndrome in a Chinese Man

Overview

Journal Intractable Rare Dis Res

Date 2018 Mar 20

PMID 29552444

Citations 7

Authors

Yanqin Lu

Yanzhou Wang

Frank Rauch

Hu Li

Yao Zhang

Naixiang Zhai

Jian Zhang

Xiuzhi Ren

Jinxiang Han

Affiliations

Soon will be listed here.

Abstract

Osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS) are rare genetic disorders that are typically inherited in an autosomal dominant manner. Few cases of OI/EDS overlap syndrome have been documented. Described here is a 30-year-old Chinese male with OI type III and EDS. Sequencing of genomic DNA revealed a heterozygous mutation (c.671G>A, p.Gly224Asp) that affected the N-anchor domain of the alpha 1 chain of collagen type I. Ultrastructural analysis of a skin biopsy specimen revealed thin collagen fibers with irregular alignment of collagen fibers. These findings have expanded the genotypic spectrum of the OI/EDS overlap syndrome.

Citing Articles

Extracutaneous features and complications of the Ehlers-Danlos syndromes: A systematic review.

Doolan B, Lavallee M, Hausser I, Schubart J, Pope F, Seneviratne S Front Med (Lausanne). 2023; 10:1053466.

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The role of cutaneous manifestations in the diagnosis of the Ehlers-Danlos syndromes.

Stembridge N, Doolan B, Lavallee M, Hausser I, Pope F, Seneviratne S Skin Health Dis. 2023; 3(1):e140.

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Mutational Screening of Skeletal Genes in 14 Chinese Children with Osteogenesis Imperfecta Using Targeted Sequencing.

Tan W, Ji Y, Qian Y, Lin Y, Ye R, Wu W J Immunol Res. 2022; 2022:5068523.

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Gnoli M, Brizola E, Tremosini M, Pedrini E, Maioli M, Mosca M Front Genet. 2021; 12:640558.

PMID: 34025714 PMC: 8138308. DOI: 10.3389/fgene.2021.640558.

Bone Disease in Patients with Ehlers-Danlos Syndromes.

Basalom S, Rauch F Curr Osteoporos Rep. 2020; 18(2):95-102.

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