Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation

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Costantini , A , Tournis , S , Kämpe , A , Ul Ain , N , Taylan , F , Doulgeraki , A & Mäkitie , O 2018 , ' Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation ' , Calcified Tissue International , vol. 103 , no. 3 , pp. 353-358 .

Title: Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation
Author: Costantini, Alice; Tournis, Symeon; Kämpe, Anders; Ul Ain, Noor; Taylan, Fulya; Doulgeraki, Artemis; Mäkitie, Outi
Contributor organization: Clinicum
Lastentautien yksikkö
Children's Hospital
University of Helsinki
HUS Children and Adolescents
Date: 2018-09
Language: eng
Number of pages: 6
Belongs to series: Calcified Tissue International
ISSN: 0171-967X
Abstract: Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by brittle bones and extraskeletal manifestations. The disease phenotype varies greatly. Most commonly, OI arises from monoallelic mutations in one of the two genes encoding type I collagen, COL1A1 and COL1A2 and is inherited as an autosomal dominant trait. Here, we describe a consanguineous family with autosomal recessive OI caused by a novel homozygous glycine substitution in COL1A2, NM_000089.3: c.604G > A, p.(Gly202Ser), detected by whole-genome sequencing. The index patient is a 31-year-old Greek woman with severe skeletal fragility. She had mild short stature, low bone mineral density of the lumbar spine and blue sclerae. She had sustained multiple long bone and vertebral fractures since childhood and had been treated with bisphosphonates for several years. She also had an affected sister with similar clinical manifestations. Interestingly, the parents and one sister, all carriers of the COL1A2 glycine mutation, did not have manifestations of OI. In summary, we report on autosomal recessive OI caused by a homozygous glycine-to-serine substitution in COL1A2, leading to severe skeletal fragility. The mutation carriers lacked OI manifestations. This family further expands the complex genetic spectrum of OI and underscores the importance of genetic evaluation for correct genetic counselling.
Subject: Autosomal recessive
Type I collagen
Osteogenesis imperfecta
3121 General medicine, internal medicine and other clinical medicine
3111 Biomedicine
Peer reviewed: Yes
Usage restriction: openAccess
Self-archived version: acceptedVersion

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