Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report
Introduction Dominant pathogenic mutations in the TRPV4 gene give rise to a wide spectrum of abnormal phenotypes, including bone dysplasia as well as spinal muscular atrophy and hereditary motor and sensory neuropathy. Spondyloepimetaphyseal dysplasias (SEMDs) are autosomal dominant skeletal dysplas...
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| Published in: | Skeletal radiology Vol. 52; no. 1; pp. 115 - 118 |
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| Language: | English |
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2023
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| Abstract | Introduction
Dominant pathogenic mutations in the
TRPV4
gene give rise to a wide spectrum of abnormal phenotypes, including bone dysplasia as well as spinal muscular atrophy and hereditary motor and sensory neuropathy. Spondyloepimetaphyseal dysplasias (SEMDs) are autosomal dominant skeletal dysplasias characterized by mild epiphyseal dysplasia, flared metaphyses, prominent joints, spondyler dysplasia, and brachydactyly with various carpal, metacarpal, and finger malformations.
Case presentation
We present a boy who has the clinical and radiological signs of SEMD-M with a dominant
TRPV4
mutation. He also has some striking findings that have not been seen in these patients before, and they may be able to provide assistance to medical professionals in the process of diagnosis.These include a shorter distance between his lumbar vertebrae, congenital contractures, and an arachnoid cyst. |
|---|---|
| AbstractList | Dominant pathogenic mutations in the TRPV4 gene give rise to a wide spectrum of abnormal phenotypes, including bone dysplasia as well as spinal muscular atrophy and hereditary motor and sensory neuropathy. Spondyloepimetaphyseal dysplasias (SEMDs) are autosomal dominant skeletal dysplasias characterized by mild epiphyseal dysplasia, flared metaphyses, prominent joints, spondyler dysplasia, and brachydactyly with various carpal, metacarpal, and finger malformations. INTRODUCTIONDominant pathogenic mutations in the TRPV4 gene give rise to a wide spectrum of abnormal phenotypes, including bone dysplasia as well as spinal muscular atrophy and hereditary motor and sensory neuropathy. Spondyloepimetaphyseal dysplasias (SEMDs) are autosomal dominant skeletal dysplasias characterized by mild epiphyseal dysplasia, flared metaphyses, prominent joints, spondyler dysplasia, and brachydactyly with various carpal, metacarpal, and finger malformations. CASE PRESENTATIONWe present a boy who has the clinical and radiological signs of SEMD-M with a dominant TRPV4 mutation. He also has some striking findings that have not been seen in these patients before, and they may be able to provide assistance to medical professionals in the process of diagnosis.These include a shorter distance between his lumbar vertebrae, congenital contractures, and an arachnoid cyst. Abstract Introduction Dominant pathogenic mutations in the TRPV4 gene give rise to a wide spectrum of abnormal phenotypes, including bone dysplasia as well as spinal muscular atrophy and hereditary motor and sensory neuropathy. Spondyloepimetaphyseal dysplasias (SEMDs) are autosomal dominant skeletal dysplasias characterized by mild epiphyseal dysplasia, flared metaphyses, prominent joints, spondyler dysplasia, and brachydactyly with various carpal, metacarpal, and finger malformations.Case presentationWe present a boy who has the clinical and radiological signs of SEMD-M with a dominant TRPV4 mutation. He also has some striking findings that have not been seen in these patients before, and they may be able to provide assistance to medical professionals in the process of diagnosis.These include a shorter distance between his lumbar vertebrae, congenital contractures, and an arachnoid cyst. Introduction Dominant pathogenic mutations in the TRPV4 gene give rise to a wide spectrum of abnormal phenotypes, including bone dysplasia as well as spinal muscular atrophy and hereditary motor and sensory neuropathy. Spondyloepimetaphyseal dysplasias (SEMDs) are autosomal dominant skeletal dysplasias characterized by mild epiphyseal dysplasia, flared metaphyses, prominent joints, spondyler dysplasia, and brachydactyly with various carpal, metacarpal, and finger malformations. Case presentation We present a boy who has the clinical and radiological signs of SEMD-M with a dominant TRPV4 mutation. He also has some striking findings that have not been seen in these patients before, and they may be able to provide assistance to medical professionals in the process of diagnosis.These include a shorter distance between his lumbar vertebrae, congenital contractures, and an arachnoid cyst. Introduction Dominant pathogenic mutations in the TRPV4 gene give rise to a wide spectrum of abnormal phenotypes, including bone dysplasia as well as spinal muscular atrophy and hereditary motor and sensory neuropathy. Spondyloepimetaphyseal dysplasias (SEMDs) are autosomal dominant skeletal dysplasias characterized by mild epiphyseal dysplasia, flared metaphyses, prominent joints, spondyler dysplasia, and brachydactyly with various carpal, metacarpal, and finger malformations. Case presentation We present a boy who has the clinical and radiological signs of SEMD-M with a dominant TRPV4 mutation. He also has some striking findings that have not been seen in these patients before, and they may be able to provide assistance to medical professionals in the process of diagnosis.These include a shorter distance between his lumbar vertebrae, congenital contractures, and an arachnoid cyst. Dominant pathogenic mutations in the TRPV4 gene give rise to a wide spectrum of abnormal phenotypes, including bone dysplasia as well as spinal muscular atrophy and hereditary motor and sensory neuropathy. Spondyloepimetaphyseal dysplasias (SEMDs) are autosomal dominant skeletal dysplasias characterized by mild epiphyseal dysplasia, flared metaphyses, prominent joints, spondyler dysplasia, and brachydactyly with various carpal, metacarpal, and finger malformations. We present a boy who has the clinical and radiological signs of SEMD-M with a dominant TRPV4 mutation. He also has some striking findings that have not been seen in these patients before, and they may be able to provide assistance to medical professionals in the process of diagnosis.These include a shorter distance between his lumbar vertebrae, congenital contractures, and an arachnoid cyst. |
| Audience | Academic |
| Author | Güleryüz, Handan Ülgenalp, Ayfer Bozkaya, Özlem Giray Uzman, Ceren Yılmaz Çankaya, Tufan |
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| Cites_doi | 10.1016/j.pedneo.2018.04.002 10.1002/ajmg.a.61366 10.1002/ajmg.a.20095 10.1002/ajmg.c.31335 10.1002/ajmg.a.33392 10.1002/ajmg.a.20442 10.1002/ajmg.a.33414 10.1096/fj.13-245936 10.1158/0008-5472.CAN-08-0877 10.1016/j.ajhg.2019.01.007 10.1080/09687680701635237 |
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| Keywords | Spondyloepimetaphyseal dysplasia TRPV4 Skeletal dysplasia |
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| References | Leddy, McNulty, Lee, Rothfusz, Gloss (CR9) 2014; 28 Mortier, Cohn, Cormier-Daire, Hall, Krakow (CR4) 2019; 179 Nishimura, Kizu, Kijima, Sakai, Kawaguchi (CR7) 2003; 120A Becker, Müller, Leuner, Jendrach (CR11) 2008; 25 Nishimura, Lausch, Savarirayan, Shiba, Spranger (CR2) 2012; 160C Burrage, Reynolds, Baratang, Phillips, Wegner (CR8) 2019; 104 Hsu, Hwu, Chen, Chung, Peng (CR1) 2019; 60 Nishimura, Dai, Lausch, Unger, Megarbané (CR6) 2010; 152A Arora, Wang, Keenan, Andaya, Zhang (CR10) 2009; 69 Camacho, Krakow, Johnykutty, Katzman, Pepkowitz (CR5) 2010; 152A Mégarbané, Maroteaux, Caillaud, Le Merrer (CR3) 2004; 125A D Becker (4105_CR11) 2008; 25 HA Leddy (4105_CR9) 2014; 28 G Nishimura (4105_CR6) 2010; 152A A Mégarbané (4105_CR3) 2004; 125A RH Hsu (4105_CR1) 2019; 60 G Nishimura (4105_CR2) 2012; 160C N Camacho (4105_CR5) 2010; 152A GR Mortier (4105_CR4) 2019; 179 S Arora (4105_CR10) 2009; 69 G Nishimura (4105_CR7) 2003; 120A LC Burrage (4105_CR8) 2019; 104 |
| References_xml | – volume: 60 start-page: 102 issue: 1 year: 2019 end-page: 104 ident: CR1 article-title: Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs publication-title: Pediatr Neonatol doi: 10.1016/j.pedneo.2018.04.002 contributor: fullname: Peng – volume: 179 start-page: 2393 issue: 12 year: 2019 end-page: 2419 ident: CR4 article-title: Nosology and classification of genetic skeletal disorders: 2019 revision publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.61366 contributor: fullname: Krakow – volume: 120A start-page: 498 issue: 4 year: 2003 end-page: 502 ident: CR7 article-title: Spondyloepiphyseal dysplasia Maroteaux type: report of three patients from two families and exclusion of type II collagen defects publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.20095 contributor: fullname: Kawaguchi – volume: 160C start-page: 190 issue: 3 year: 2012 end-page: 204 ident: CR2 article-title: TRPV4-associated skeletal dysplasias publication-title: Am J Med Genet C Semin Med Genet doi: 10.1002/ajmg.c.31335 contributor: fullname: Spranger – volume: 152A start-page: 1169 issue: 5 year: 2010 end-page: 1177 ident: CR5 article-title: Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.33392 contributor: fullname: Pepkowitz – volume: 125A start-page: 61 issue: 1 year: 2004 end-page: 66 ident: CR3 article-title: Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.20442 contributor: fullname: Le Merrer – volume: 152A start-page: 1443 issue: 6 year: 2010 end-page: 1449 ident: CR6 article-title: Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.33414 contributor: fullname: Megarbané – volume: 28 start-page: 2525 issue: 6 year: 2014 end-page: 2537 ident: CR9 article-title: Follistatin in chondrocytes: the link between TRPV4 channelopathies and skeletal malformations publication-title: FASEB J doi: 10.1096/fj.13-245936 contributor: fullname: Gloss – volume: 69 start-page: 1910 issue: 5 year: 2009 end-page: 1915 ident: CR10 article-title: Novel microtubule polymerization inhibitor with potent antiproliferative and antitumor activity publication-title: Cancer Res doi: 10.1158/0008-5472.CAN-08-0877 contributor: fullname: Zhang – volume: 104 start-page: 422 issue: 3 year: 2019 end-page: 438 ident: CR8 article-title: Bi-allelic variants in TONSL cause SPONASTRIME dysplasia and a spectrum of skeletal dysplasia phenotypes publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2019.01.007 contributor: fullname: Wegner – volume: 25 start-page: 139 issue: 2 year: 2008 end-page: 151 ident: CR11 article-title: The C-terminal domain of TRPV4 is essential for plasma membrane localization publication-title: Mol Membr Biol doi: 10.1080/09687680701635237 contributor: fullname: Jendrach – volume: 120A start-page: 498 issue: 4 year: 2003 ident: 4105_CR7 publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.20095 contributor: fullname: G Nishimura – volume: 25 start-page: 139 issue: 2 year: 2008 ident: 4105_CR11 publication-title: Mol Membr Biol doi: 10.1080/09687680701635237 contributor: fullname: D Becker – volume: 152A start-page: 1443 issue: 6 year: 2010 ident: 4105_CR6 publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.33414 contributor: fullname: G Nishimura – volume: 104 start-page: 422 issue: 3 year: 2019 ident: 4105_CR8 publication-title: Am J Hum Genet doi: 10.1016/j.ajhg.2019.01.007 contributor: fullname: LC Burrage – volume: 179 start-page: 2393 issue: 12 year: 2019 ident: 4105_CR4 publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.61366 contributor: fullname: GR Mortier – volume: 160C start-page: 190 issue: 3 year: 2012 ident: 4105_CR2 publication-title: Am J Med Genet C Semin Med Genet doi: 10.1002/ajmg.c.31335 contributor: fullname: G Nishimura – volume: 60 start-page: 102 issue: 1 year: 2019 ident: 4105_CR1 publication-title: Pediatr Neonatol doi: 10.1016/j.pedneo.2018.04.002 contributor: fullname: RH Hsu – volume: 28 start-page: 2525 issue: 6 year: 2014 ident: 4105_CR9 publication-title: FASEB J doi: 10.1096/fj.13-245936 contributor: fullname: HA Leddy – volume: 125A start-page: 61 issue: 1 year: 2004 ident: 4105_CR3 publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.20442 contributor: fullname: A Mégarbané – volume: 152A start-page: 1169 issue: 5 year: 2010 ident: 4105_CR5 publication-title: Am J Med Genet A doi: 10.1002/ajmg.a.33392 contributor: fullname: N Camacho – volume: 69 start-page: 1910 issue: 5 year: 2009 ident: 4105_CR10 publication-title: Cancer Res doi: 10.1158/0008-5472.CAN-08-0877 contributor: fullname: S Arora |
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| Snippet | Introduction
Dominant pathogenic mutations in the
TRPV4
gene give rise to a wide spectrum of abnormal phenotypes, including bone dysplasia as well as spinal... Dominant pathogenic mutations in the TRPV4 gene give rise to a wide spectrum of abnormal phenotypes, including bone dysplasia as well as spinal muscular... Introduction Dominant pathogenic mutations in the TRPV4 gene give rise to a wide spectrum of abnormal phenotypes, including bone dysplasia as well as spinal... Abstract Introduction Dominant pathogenic mutations in the TRPV4 gene give rise to a wide spectrum of abnormal phenotypes, including bone dysplasia as well as... INTRODUCTIONDominant pathogenic mutations in the TRPV4 gene give rise to a wide spectrum of abnormal phenotypes, including bone dysplasia as well as spinal... |
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| SubjectTerms | Age Atrophy Bone Diseases, Developmental - pathology Bone dysplasia Bones Brachydactyly Case Report Case reports Cysts Dysplasia Fractures Genetic aspects Genetic disorders Humans Imaging Male Medical personnel Medicine Medicine & Public Health Metacarpal Mutation Neuromuscular diseases Neuropathy Nuclear Medicine Orthopedics Osteochondrodysplasias - diagnostic imaging Osteochondrodysplasias - genetics Osteochondrodysplasias - pathology Pathology Patients Pediatrics Phenotype Phenotypes Radiology Scoliosis Spinal muscular atrophy TRPV Cation Channels - genetics Vertebrae |
| Title | Spondyloepimetaphyseal dysplasia-Maroteaux type due to dominant TRPV4 mutation: expanding the phenotype with a case report |
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