Identification of a novel mutation in the MAFB gene in a pediatric patient with multicentric carpotarsal osteolysis syndrome using next-generation sequencing

Li, Jun; Shi, Lei; Lau, Keith K; Ma, Yijiao; Song, Jia; Gao, Xiaojie

doi:10.1016/j.ejmg.2020.103902

Cited by 11 publications

(16 citation statements)

References 13 publications

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“…The history of present illness of our patients underscores once again the importance of making a clear distinction between some genetic skeletal dysplasias including MONA syndrome and multicentric carpotarsal osteolysis syndrome, and the spectrum of juvenile idiopathic arthritis ( Barut et al, 2017 ). And conforms to history of present illness described repeatedly in the literature on the above-named genetic skeletal syndromes respecting initial misdiagnosis as juvenile idiopathic arthritis ( Zankl et al, 2007 ; Al Aqeel et al, 2000 ; Al Kaissi et al, 2011 ; Castberg et al, 2013 ; Gok et al, 2010 ; Li et al, 2020 ; Park et al, 2018 ; Upadia et al, 2018 ; Gökay et al, 2018 ; Zhuang et al, 2017 ; Sun et al, 2016 ). This applies also to a wider array of genetic skeletal dysplasias which can mimic juvenile idiopathic arthritis clinically as progressive pseudorheumatoid dysplasia ( EL-Sobky et al, 2017a ; Gamal et al, 2017 ; Gaboon et al, 2019 ; Torreggiani et al, 2019 ; Madhusudan et al, 2016 ; Taspinar et al, 2016 ; Kaya Akca et al, 2021 ; Al Kaissi et al, 2020 ).…”

Section: Discussionsupporting

confidence: 81%

“…Some authors include Ter Haar syndrome (FTHS [MIM # 249420 ]) which is caused by homozygous mutation in the TKS4 gene among the MONA syndrome spectrum disorders ( Chang et al, 2017 ; Bendon et al, 2012 ; Iqbal et al, 2010 ; van Steensel et al, 2007 ; Borrone et al, 1993 ). The autosomal dominant rare multicentric carpotarsal osteolysis syndrome (MCTO [MIM # 166300 ]) with or without nephropathy is another important differential diagnosis of MONA syndrome ( Li et al, 2020 ; Park et al, 2018 ; Upadia et al, 2018 ; Stajkovska et al, 2018 ; Mumm et al, 2014 ; Zankl et al, 2012 ). The overlapping skeletal and non-skeletal features of these two genetic skeletal dysplasias compounds the diagnostic challenges.…”

Section: Introductionmentioning

confidence: 99%

“…The overlapping skeletal and non-skeletal features of these two genetic skeletal dysplasias compounds the diagnostic challenges. Additionally, MONA and Winchester syndromes ( Winchester et al, 1969 ; Al Aqeel et al, 2000 ) among others ( Al Kaissi et al, 2011 ; Li et al, 2020 ) can have a misleading radioclinical resemblance to juvenile idiopathic arthritis and mucopolysaccharidosis (MPS) type-I as Scheie syndrome ( Hampe et al, 2020 ; Gökay et al, 2018 ). The treatment of MONA syndrome is palliative ( Pichler et al, 2016 ) and little is known about the long-term prognosis apart from tendency to progression of skeletal features.…”

Section: Introductionmentioning

confidence: 99%

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Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations

et al. 2021

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Multicentric Osteolysis, Nodulosis, and Arthropathy (MONA) syndrome is a rare genetic skeletal dysplasia. Its diagnosis can be deceptively similar to childhood-onset genetic skeletal dysplasias and juvenile idiopathic arthritis. We aimed to report the syndrome’s clinical and radiologic features with emphasis on skeletal manifestations. And establish relevant phenotype-genotype correlations. We evaluated two boys, 4-and-7-years-old with MONA syndrome. Both patients had consanguineous parents. We verified the diagnosis by correlating the outcomes of clinical, radiologic and molecular analysis. We specifically evaluated the craniofacial morphology and clinical and radiographic skeletal abnormalities. We contextualized the resultant phenotype-genotype correlations to publications on MONA and its differential diagnosis. Skeletal manifestations were the presenting symptoms and mostly restricted to hands and feet in terms of fixed extension deformity of the metacarpophalangeal and flexion deformity of the interphalangeal joints with extension deformity of big toes. There were arthritic symptoms in the older patient especially of the wrists and minute pathologic fractures. The skeletal radiographs showed osteopenia/dysplastic changes of hands and feet. Both patients had variants in the matrix metalloproteinase2 gene which conformed to phenotype of previously reported literature in one patient while the other had a novel variant which conformed to MONA phenotype. Craniofacial abnormalities were present. However, minimal extra-skeletal manifestations. Overall, there is an emerging distinctive skeletal pattern of involvement in terms of both clinical and radiographic features. This includes age of onset and location of presenting skeletal manifestations, chronological order of joint affection, longitudinal disease progression, specifics of skeletal radiographic pathology and craniofacial features. Nevertheless, physicians are cautioned against differential diagnosis of similar genetic skeletal dysplasias and juvenile idiopathic arthritis.

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Section: Discussionsupporting

confidence: 81%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations

et al. 2021

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“…Some authors include Ter Haar syndrome (FTHS [MIM # 249420]) which is caused by homozygous mutation in the TKS4 gene among the MONA syndrome spectrum disorders (20)(21)(22)(23)(24). The autosomal dominant rare multicentric carpotarsal osteolysis syndrome (MCTO [MIM # 166300]) with or without nephropathy is another important differential diagnosis of MONA syndrome (25)(26)(27)(28)(29)(30). The overlapping skeletal and non-skeletal features of these two genetic skeletal dysplasias compounds the diagnostic challenges.…”

Section: Introductionmentioning

confidence: 99%

“…The overlapping skeletal and non-skeletal features of these two genetic skeletal dysplasias compounds the diagnostic challenges. Additionally, MONA and Winchester syndromes (1, 8) among others (9,25) can have a misleading radioclinical resemblance to juvenile idiopathic arthritis and mucopolysaccharidosis (MPS) type-I as Scheie syndrome (31,32). The treatment of MONA syndrome is palliative (33) and little is known about the long-term prognosis apart from tendency to progression of skeletal features.…”

Section: Introductionmentioning

confidence: 99%

Multicentric Osteolysis, Nodulosis, and Arthropathy in Two Unrelated Children with Matrix Metalloproteinase 2 Variants: Genetic-Skeletal Correlations

Elsebaie¹,

Mansour²,

Elsayed³

et al. 2021

Preprint

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Objectives: Multicentric Osteolysis, Nodulosis, and Arthropathy (MONA) syndrome is a rare genetic skeletal dysplasia. Its diagnosis can be deceptively similar to childhood-onset genetic skeletal dysplasias and juvenile idiopathic arthritis. We aimed to report the syndrome’s clinical and radiologic features with emphasis on skeletal manifestations. And establish relevant phenotype-genotype correlations. Methods: We evaluated two boys, 4-and-7-years-old with MONA syndrome. Both patients had consanguineous parents. We verified the diagnosis by correlating the outcomes of clinical, radiologic and molecular analysis. We specifically evaluated the craniofacial morphology and clinical and radiographic skeletal abnormalities. We contextualized the resultant phenotype-genotype correlations to publications on MONA and its differential diagnosis. Results: Skeletal manifestations were the presenting symptoms and mostly restricted to hands and feet in terms of fixed extension deformity of the metacarpophalangeal and flexion deformity of the interphalangeal joints with extension deformity of big toes. There were arthritic symptoms in the older patient especially of the wrists and minute pathologic fractures. The skeletal radiographs showed osteopenia/dysplastic changes of hands and feet. Both patients had variants in the matrix metalloproteinase2 gene which conformed to phenotype of previously reported literature in one patient while the other had a novel variant which conformed to MONA phenotype. Craniofacial abnormalities were present. However, minimal extra-skeletal manifestations. Conclusion: Overall, there is an emerging distinctive skeletal pattern of involvement in terms of both clinical and radiographic features. This includes age of onset and location of presenting skeletal manifestations, chronological order of joint affection, longitudinal disease progression, specifics of skeletal radiographic pathology and craniofacial features. Nevertheless, physicians are cautioned against differential diagnosis of similar genetic skeletal dysplasias and juvenile idiopathic arthritis.

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A case report of multicentric carpotarsal osteolysis syndrome: Depiction of a debilitating disease course

Li,

Ho,

Lee

et al. 2024

American J of Med Genetics Pt A

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Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal disorder characterized by progressive osteolysis involving the carpal and tarsal bones, and often associated with nephropathy. It is caused by heterozygous mutation in the MAF bZIP transcription factor B (MAFB) gene. Heterogeneous clinical manifestation and wide spectrum of disease severity have been observed in patients with MCTO. Here, we report a case of a male patient who presented with kidney failure in childhood with progressive disabling skeletal deformity. He was diagnosed with MCTO at 31‐years‐old, where a de novo pathogenic heterozygous variant in NM_005461.5:c.212C>A: p.(Pro71His) of the MAFB gene was identified. While there has been little data on the long‐term prognosis and life expectancy of this disease, this case report sheds light on the debilitating disease course with multiple significant morbidities of a patient with MCTO throughout his lifetime of 33 years.

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Identification of a novel mutation in the MAFB gene in a pediatric patient with multicentric carpotarsal osteolysis syndrome using next-generation sequencing

Cited by 11 publications

References 13 publications

Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations

Multicentric Osteolysis, Nodulosis, and Arthropathy in two unrelated children with matrix metalloproteinase 2 variants: Genetic-skeletal correlations

Multicentric Osteolysis, Nodulosis, and Arthropathy in Two Unrelated Children with Matrix Metalloproteinase 2 Variants: Genetic-Skeletal Correlations

A case report of multicentric carpotarsal osteolysis syndrome: Depiction of a debilitating disease course

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