Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

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dc.contributor.authorMercier, Sandra
dc.contributor.authorKüry, Sébastien
dc.contributor.authorSalort-Campana, Emmanuelle
dc.contributor.authorMagot, Armelle
dc.contributor.authorAgbim, Uchenna
dc.contributor.authorBesnard, Thomas
dc.contributor.authorBodak, Nathalie
dc.contributor.authorBou-Hanna, Chantal
dc.contributor.authorBréhéret, Flora
dc.contributor.authorBrunelle, Perrine
dc.contributor.authorCaillon, Florence
dc.contributor.authorChabrol, Brigitte
dc.contributor.authorCormier-Daire, Valérie
dc.contributor.authorDavid, Albert
dc.contributor.authorEymard, Bruno
dc.contributor.authorFaivre, Laurence
dc.contributor.authorFigarella-Branger, Dominique
dc.contributor.authorFleurence, Emmanuelle
dc.contributor.authorGanapathi, Mythily
dc.contributor.authorGherardi, Romain
dc.contributor.authorGoldenberg, Alice
dc.contributor.authorHamel, Antoine
dc.contributor.authorIgual, Jeanine
dc.contributor.authorIrvine, Alan D
dc.contributor.authorIsraël-Biet, Dominique
dc.contributor.authorKannengiesser, Caroline
dc.contributor.authorLaboisse, Christian
dc.contributor.authorLe Caignec, Cédric
dc.contributor.authorMahé, Jean-Yves
dc.contributor.authorMallet, Stéphanie
dc.contributor.authorMacGowan, Stuart
dc.contributor.authorMcAleer, Maeve A
dc.contributor.authorMcLean, Irwin
dc.contributor.authorMéni, Cécile
dc.contributor.authorMunnich, Arnold
dc.contributor.authorMussini, Jean-Marie
dc.contributor.authorNagy, Peter L
dc.contributor.authorOdel, Jeffrey
dc.contributor.authorO’Regan, Grainne M
dc.contributor.authorPéréon, Yann
dc.contributor.authorPerrier, Julie
dc.contributor.authorPiard, Juliette
dc.contributor.authorPuzenat, Eve
dc.contributor.authorSampson, Jacinda B
dc.contributor.authorSmith, Frances
dc.contributor.authorSoufir, Nadem
dc.contributor.authorTanji, Kurenai
dc.contributor.authorThauvin, Christel
dc.contributor.authorUlane, Christina
dc.contributor.authorWatson, Rosemarie M
dc.contributor.authorKhumalo, Nonhlanhla P
dc.contributor.authorMayosi, Bongani M
dc.contributor.authorBarbarot, Sébastien
dc.contributor.authorBézieau, Stéphane
dc.date.accessioned2021-10-08T07:08:31Z
dc.date.available2021-10-08T07:08:31Z
dc.date.issued2015
dc.description.abstractBackgroundHereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3), the function of which is still unknown. Our objective in this study was to better define the specific features of POIKTMP through a larger series of patients.MethodsClinical and molecular data of two families and eight independent sporadic cases, including six new cases, were collected.ResultsKey features consist of: (i) early-onset poikiloderma, hypotrichosis and hypohidrosis; (ii) multiple contractures, in particular triceps surae muscle contractures; (iii) diffuse progressive muscular weakness; (iv) pulmonary fibrosis in adulthood and (v) other features including exocrine pancreatic insufficiency, liver impairment and growth retardation. Muscle magnetic resonance imaging was informative and showed muscle atrophy and fatty infiltration. Histological examination of skeletal muscle revealed extensive fibroadipose tissue infiltration. Microscopy of the skin showed a scleroderma-like aspect with fibrosis and alterations of the elastic network. FAM111B gene analysis identified five different missense variants (two recurrent mutations were found respectively in three and four independent families). All the mutations were predicted to localize in the trypsin-like cysteine/serine peptidase domain of the protein. We suggest gain-of-function or dominant-negative mutations resulting in FAM111B enzymatic activity changes.ConclusionsHFP with tendon contractures, myopathy and pulmonary fibrosis, is a multisystemic disorder due to autosomal dominant FAM111B mutations. Future functional studies will help in understanding the specific pathological process of this fibrosing disorder.
dc.identifier.apacitationMercier, S., Küry, S., Salort-Campana, E., Magot, A., Agbim, U., Besnard, T., ... Bézieau, S. (2015). Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations. <i>Orphanet Journal of Rare Diseases</i>, 10(1), 174 - 177. http://hdl.handle.net/11427/34599en_ZA
dc.identifier.chicagocitationMercier, Sandra, Sébastien Küry, Emmanuelle Salort-Campana, Armelle Magot, Uchenna Agbim, Thomas Besnard, Nathalie Bodak, et al "Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations." <i>Orphanet Journal of Rare Diseases</i> 10, 1. (2015): 174 - 177. http://hdl.handle.net/11427/34599en_ZA
dc.identifier.citationMercier, S., Küry, S., Salort-Campana, E., Magot, A., Agbim, U., Besnard, T., Bodak, N. & Bou-Hanna, C. et al. 2015. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations. <i>Orphanet Journal of Rare Diseases.</i> 10(1):174 - 177. http://hdl.handle.net/11427/34599en_ZA
dc.identifier.issn1750-1172
dc.identifier.ris TY - Journal Article AU - Mercier, Sandra AU - Küry, Sébastien AU - Salort-Campana, Emmanuelle AU - Magot, Armelle AU - Agbim, Uchenna AU - Besnard, Thomas AU - Bodak, Nathalie AU - Bou-Hanna, Chantal AU - Bréhéret, Flora AU - Brunelle, Perrine AU - Caillon, Florence AU - Chabrol, Brigitte AU - Cormier-Daire, Valérie AU - David, Albert AU - Eymard, Bruno AU - Faivre, Laurence AU - Figarella-Branger, Dominique AU - Fleurence, Emmanuelle AU - Ganapathi, Mythily AU - Gherardi, Romain AU - Goldenberg, Alice AU - Hamel, Antoine AU - Igual, Jeanine AU - Irvine, Alan D AU - Israël-Biet, Dominique AU - Kannengiesser, Caroline AU - Laboisse, Christian AU - Le Caignec, Cédric AU - Mahé, Jean-Yves AU - Mallet, Stéphanie AU - MacGowan, Stuart AU - McAleer, Maeve A AU - McLean, Irwin AU - Méni, Cécile AU - Munnich, Arnold AU - Mussini, Jean-Marie AU - Nagy, Peter L AU - Odel, Jeffrey AU - O’Regan, Grainne M AU - Péréon, Yann AU - Perrier, Julie AU - Piard, Juliette AU - Puzenat, Eve AU - Sampson, Jacinda B AU - Smith, Frances AU - Soufir, Nadem AU - Tanji, Kurenai AU - Thauvin, Christel AU - Ulane, Christina AU - Watson, Rosemarie M AU - Khumalo, Nonhlanhla P AU - Mayosi, Bongani M AU - Barbarot, Sébastien AU - Bézieau, Stéphane AB - BackgroundHereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3), the function of which is still unknown. Our objective in this study was to better define the specific features of POIKTMP through a larger series of patients.MethodsClinical and molecular data of two families and eight independent sporadic cases, including six new cases, were collected.ResultsKey features consist of: (i) early-onset poikiloderma, hypotrichosis and hypohidrosis; (ii) multiple contractures, in particular triceps surae muscle contractures; (iii) diffuse progressive muscular weakness; (iv) pulmonary fibrosis in adulthood and (v) other features including exocrine pancreatic insufficiency, liver impairment and growth retardation. Muscle magnetic resonance imaging was informative and showed muscle atrophy and fatty infiltration. Histological examination of skeletal muscle revealed extensive fibroadipose tissue infiltration. Microscopy of the skin showed a scleroderma-like aspect with fibrosis and alterations of the elastic network. FAM111B gene analysis identified five different missense variants (two recurrent mutations were found respectively in three and four independent families). All the mutations were predicted to localize in the trypsin-like cysteine/serine peptidase domain of the protein. We suggest gain-of-function or dominant-negative mutations resulting in FAM111B enzymatic activity changes.ConclusionsHFP with tendon contractures, myopathy and pulmonary fibrosis, is a multisystemic disorder due to autosomal dominant FAM111B mutations. Future functional studies will help in understanding the specific pathological process of this fibrosing disorder. DA - 2015 DB - OpenUCT DP - University of Cape Town IS - 1 J1 - Orphanet Journal of Rare Diseases LK - https://open.uct.ac.za PY - 2015 SM - 1750-1172 T1 - Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations TI - Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations UR - http://hdl.handle.net/11427/34599 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/34599
dc.identifier.vancouvercitationMercier S, Küry S, Salort-Campana E, Magot A, Agbim U, Besnard T, et al. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations. Orphanet Journal of Rare Diseases. 2015;10(1):174 - 177. http://hdl.handle.net/11427/34599.en_ZA
dc.language.isoeng
dc.publisher.departmentDepartment of Medicine
dc.publisher.facultyFaculty of Health Sciences
dc.sourceOrphanet Journal of Rare Diseases
dc.source.journalissue1
dc.source.journalvolume10
dc.source.pagination174 - 177
dc.source.urihttps://dx.doi.org/10.1186/s13023-015-0352-4
dc.subject.otherFAM111B
dc.subject.otherFibrosis
dc.subject.otherHypohidrosis
dc.subject.otherExocrine Pancreatic Insufficiency
dc.subject.otherPulmonary Fibrosis
dc.subject.otherHypotrichosis
dc.subject.otherMuscle Weakness
dc.subject.otherContracture
dc.subject.otherMuscular Diseases
dc.subject.otherMuscular Atrophy
dc.subject.otherTissues
dc.subject.otherSkin
dc.subject.otherLiver
dc.subject.otherMuscle, Skeletal
dc.subject.otherMuscles
dc.subject.otherTendons
dc.subject.otherTrypsin
dc.subject.otherCysteine
dc.subject.otherProteins
dc.subject.otherSerine
dc.subject.otherGrowth
dc.subject.otherGenes
dc.subject.otherExome
dc.subject.otherMutation
dc.subject.otherMagnetic Resonance Imaging
dc.subject.otherMicroscopy
dc.subject.otherMedicine/Public Health
dc.titleExpanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations
dc.typeJournal Article
uct.type.publicationResearch
uct.type.resourceJournal Article
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