{"id":1656,"date":"2021-09-02T14:56:30","date_gmt":"2021-09-02T14:56:30","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1656"},"modified":"2026-02-23T21:13:26","modified_gmt":"2026-02-23T21:13:26","slug":"expanding-the-phenotype-of-sparc-related-osteogenesis-imperfecta-clinical-findings-in-two-patients-with-pathogenic-variants-in-sparc-and-literature-review","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/09\/02\/expanding-the-phenotype-of-sparc-related-osteogenesis-imperfecta-clinical-findings-in-two-patients-with-pathogenic-variants-in-sparc-and-literature-review\/","title":{"rendered":"Expanding the phenotype of SPARC-related Osteogenesis Imperfecta: Clinical findings in two patients with pathogenic variants in SPARC and literature review (Contributed by Dr Meena Balasubramanian)"},"content":{"rendered":"<p>In this manuscript, we describe two individuals with a very rare form of osteogenesis imperfecta (OI, also known as brittle bone disease) caused due to faults within SPARC gene. There are only a handful of patients described in the literature with this OI type and all these patients have significant fractures, curvature of spine and developmental delay. We have identified significant neuromuscular weakness as an initial presentation with this form of OI that doctors should look out for. This will allow early treatment options such as bisphosphonates to be started and ensure the spine is carefully monitored for increasing curvature. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2021\/08\/29\/jmedgenet-2021-107942\">https:\/\/jmg.bmj.com\/content\/early\/2021\/08\/29\/jmedgenet-2021-107942<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/09\/02\/expanding-the-phenotype-of-sparc-related-osteogenesis-imperfecta-clinical-findings-in-two-patients-with-pathogenic-variants-in-sparc-and-literature-review\/mb-bbs-photo\/\" rel=\"attachment wp-att-1657\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1657\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/09\/MB-BBS-Photo-300x200.jpg\" alt=\"\" width=\"300\" height=\"200\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/09\/MB-BBS-Photo-300x200.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/09\/MB-BBS-Photo-1024x683.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/09\/MB-BBS-Photo-768x512.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/09\/MB-BBS-Photo-1536x1024.jpg 1536w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/09\/MB-BBS-Photo-2048x1365.jpg 2048w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/09\/MB-BBS-Photo-640x427.jpg 640w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>Drs. Meena Balasubramanian(far left) and Catherine DeVile (second author) with members of Brittle Bone Society<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>In this manuscript, we describe two individuals with a very rare form of osteogenesis imperfecta (OI, also known as brittle bone disease) caused due to faults within SPARC gene. There are only a handful of patients described in the literature with this OI type and all these patients have significant fractures, curvature of spine and [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/09\/02\/expanding-the-phenotype-of-sparc-related-osteogenesis-imperfecta-clinical-findings-in-two-patients-with-pathogenic-variants-in-sparc-and-literature-review\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1656","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Expanding the phenotype of SPARC-related Osteogenesis Imperfecta: Clinical findings in two patients with pathogenic variants in SPARC and literature review (Contributed by Dr Meena Balasubramanian) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/09\/02\/expanding-the-phenotype-of-sparc-related-osteogenesis-imperfecta-clinical-findings-in-two-patients-with-pathogenic-variants-in-sparc-and-literature-review\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Expanding the phenotype of SPARC-related Osteogenesis Imperfecta: Clinical findings in two patients with pathogenic variants in SPARC and literature review (Contributed by Dr Meena Balasubramanian) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"In this manuscript, we describe two individuals with a very rare form of osteogenesis imperfecta (OI, also known as brittle bone disease) caused due to faults within SPARC gene. There are only a handful of patients described in the literature with this OI type and all these patients have significant fractures, curvature of spine and [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2021\/09\/02\/expanding-the-phenotype-of-sparc-related-osteogenesis-imperfecta-clinical-findings-in-two-patients-with-pathogenic-variants-in-sparc-and-literature-review\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2021-09-02T14:56:30+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T21:13:26+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/09\/MB-BBS-Photo-scaled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2560\" \/>\n\t<meta property=\"og:image:height\" content=\"1707\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/09\\\/02\\\/expanding-the-phenotype-of-sparc-related-osteogenesis-imperfecta-clinical-findings-in-two-patients-with-pathogenic-variants-in-sparc-and-literature-review\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/09\\\/02\\\/expanding-the-phenotype-of-sparc-related-osteogenesis-imperfecta-clinical-findings-in-two-patients-with-pathogenic-variants-in-sparc-and-literature-review\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Expanding the phenotype of SPARC-related Osteogenesis Imperfecta: Clinical findings in two patients with pathogenic variants in SPARC and literature review (Contributed by Dr Meena Balasubramanian)\",\"datePublished\":\"2021-09-02T14:56:30+00:00\",\"dateModified\":\"2026-02-23T21:13:26+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/09\\\/02\\\/expanding-the-phenotype-of-sparc-related-osteogenesis-imperfecta-clinical-findings-in-two-patients-with-pathogenic-variants-in-sparc-and-literature-review\\\/\"},\"wordCount\":149,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/09\\\/02\\\/expanding-the-phenotype-of-sparc-related-osteogenesis-imperfecta-clinical-findings-in-two-patients-with-pathogenic-variants-in-sparc-and-literature-review\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2021\\\/09\\\/MB-BBS-Photo-300x200.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/09\\\/02\\\/expanding-the-phenotype-of-sparc-related-osteogenesis-imperfecta-clinical-findings-in-two-patients-with-pathogenic-variants-in-sparc-and-literature-review\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/09\\\/02\\\/expanding-the-phenotype-of-sparc-related-osteogenesis-imperfecta-clinical-findings-in-two-patients-with-pathogenic-variants-in-sparc-and-literature-review\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/09\\\/02\\\/expanding-the-phenotype-of-sparc-related-osteogenesis-imperfecta-clinical-findings-in-two-patients-with-pathogenic-variants-in-sparc-and-literature-review\\\/\",\"name\":\"Expanding the phenotype of SPARC-related Osteogenesis Imperfecta: Clinical findings in two patients with pathogenic variants in SPARC and literature review (Contributed by Dr Meena Balasubramanian) - 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