Ask about this productRelated genes to: IFITM5 antibody
- Gene:
- IFITM5 NIH gene
- Name:
- interferon induced transmembrane protein 5
- Previous symbol:
- -
- Synonyms:
- fragilis4, Hrmp1, BRIL, DSPA1
- Chromosome:
- 11p15.5
- Locus Type:
- gene with protein product
- Date approved:
- 2006-09-21
- Date modifiied:
- 2018-03-08
Related products to: IFITM5 antibody
Related articles to: IFITM5 antibody
- Osteogenesis imperfecta (OI) is under consideration for inclusion in several genomic newborn screening initiatives, but its penetrance in clinically-unselected populations is currently unknown. It is an exemplar condition for evaluating penetrance in adult cohorts due to its relatively low mortality, variable expressivity and link to several large genes. Using genome sequencing data from ~500,000 adults in UK Biobank, we curated a set of rare pathogenic/likely pathogenic (P/LP) variants in COL1A1, COL1A2 and IFITM5 using annotations from gnomAD, ClinVar and SpliceAI. Analysis of summed read-count data from genome and exome sequencing led to exclusion of 16 mosaic variants with consistently low allelic balance of 3.4-35.9%. We identified 61 likely constitutive heterozygous P/LP variants in COL1A1 and COL1A2 (29 loss-of-function or splice variants and 32 missense) in 115 participants, with a mean age at recruitment of 55.1 years; no P/LP variants were identified in IFITM5. Phenotypes were assessed using ICD-10 codes, self-reports and heel bone mineral density (BMD). Overall disease penetrance was lower than anticipated: 40.7% for COL1A1 and 21.3% for COL1A2, potentially due to depletion of severe early-onset disease. When considering only truncating variants in COL1A1, disease penetrance increased to 73.1%, and 90% of individuals had reduced levels of circulating COL1A1 protein. For COL1A2, BMD data supported the low penetrance, whereas for COL1A1, data suggested the possibility of a subclinical phenotype. Overall, for P/LP missense variants (including those altering Gly-Xaa-Yaa repeats), the low penetrance observed suggests reliance on current ClinVar assertions to support pathogenicity may overstate OI risk in population screening. - Source: PubMed
Publication date: 2026/05/12
Pagnamenta Alistair TFasham JamesBeaumont Robin NBaker DuncanKeigwin SylviaHall TimBaple Emma LBalasubramanian MeenaJackson LeighWright Caroline F - Osteogenesis imperfecta is a rare hereditary disorder affecting bone and connective tissue. While most cases are linked to autosomal dominant mutations in the COL1A1 and COL1A2 genes, FKBP10 variants are associated with the autosomal recessive form of OI, type XI. The study represents the first cohort-based evaluation of the FKBP10 mutational spectrum in Iranian patients, leading to the discovery of a novel variant. - Source: PubMed
Publication date: 2025/11/01
Hoseinbeyki MoslemMoradifard ShirinMirkhani FatemehShariati Fatemeh SadatEhsani ParastooAlaei Mohammad RezaEbrahimi-Rad Mina - More than 100 patients have been reported with osteogenesis imperfecta due to disease-causing variants in IFITM5. Distinct features of this condition include ossification of the interosseous membrane and hypertrophic calluses. Most of them have a recurrent heterozygous variant in the 5'-UTR (c.-14C>T) of IFITM5. A few patients have a heterozygous missense variant in the first exon of IFITM5 [(c.119C>T) p.Ser40Leu]. These patients do not have the distinctive features that results from c.-14C>T variant. Fewer than 10 patients with the c.119C>T variant have been reported so far with most of them being diagnosed at birth or early infancy. We report a 45-year-old male from India with c.119C>T variant with very severe skeletal involvement. - Source: PubMed
Publication date: 2025/07/07
Amalnath DeepakRajagopal ShreyaAparna Koyyagura - Osteogenesis imperfecta (OI) is a rare inherited connective tissue disorder. It is characterized by short stature, fragility and decreased bone mass, which leads to multiple and recurrent fractures after low-energy trauma, which generates susceptibility to long bone deformity and vertebral compression. There are several types of OI, with types I to IV, in which the COL1A1 and COL1A2 genes are affected, being the most frequent. In recent years, the discovery of new forms of OI has led to research into the pathways critical aspects of bone metabolism, with new genes involved being identified. The mutation in IFITM5 has been identified as the cause of OI type V, of autosomal dominant inheritance. OI type V has distinctive clinical features including the development of hypertrophic callus after fracture, early calcification of the interosseous membrane in the forearm, and the presence of hyperdense metaphyseal bands. The case of a patient with a novo mutation in IFITM5 is presented. - Source: PubMed
Publication date: 2025/05/15
Reinoso Gomezcoello María FernandaPavón de Paz IsabelNavea Aguilera CristinaGil Fournier BelénBueno Sanchez Ana MaríaGuijarro de Armas GuadalupeMerino Viveros MaríaRosado Sierra Jose AntonioIglesias Bolaños PalomaDurán Martínez María - This study investigates the genetic landscape and phenotypic spectrum of osteogenesis imperfecta (OI) in the Kazakhstani pediatric population, focusing on 40 children diagnosed and treated at the "University Medical Center" Corporate Fund from July 2021 to June 2023. Genetic analysis was conducted using whole-genome sequencing for 22 participants at the "National Laboratory Astana" (Nazarbayev University, Astana, Kazakhstan) and whole-exome sequencing for 18 participants in private laboratories. Clinically significant genetic variants were found in 35 cases (87.5%). Mutations in the COL1A1 and COL1A2 genes were detected in 24 cases (68.6%), among them 5 variants were described for the first time. Among the rare cases of OI, variants in the IFITM5 (n = 2), SERPINF1 (n = 7), and SERPINH1 (n = 1) genes were identified. At the same time, seven unrelated cases had identical variants in the SERPINF1 gene (c.907C > T, 6 of which in the homozygous and 1 in the compound heterozygous state) and two cases in the IFITM1 gene (c.-14C > T). Novel disease-causing variants were identified in 17% of cases, and a higher proportion of collagen defects were seen. The relatively high proportion of autosomal recessive inherited OI determined in the current study should be investigated at the population level in Kazakhstan and in the countries of Central Asia. Moreover, this study described the genotype-phenotype correlation, which complements and expands the existing knowledge about the OI. - Source: PubMed
Publication date: 2025/04/02
Bayanova MirgulAbilova AigerimRakhimzhanova MarzhanBazenova AssiyaNazarova LyazzatMalik DiasTanko Naanlep MatthewAltaeva NursuluBolatov Aidos