Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1

Daniel R. Carvalho; Carlos E. Speck-Martins; Jaime M. Brum; Carlos R. Ferreira; Nara L.M. Sobreira

doi:10.1002/ajmg.a.61614

Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1

Daniel R. Carvalho, Carlos E. Speck-Martins, Jaime M. Brum, Carlos R. Ferreira, Nara L.M. Sobreira

School of Medicine

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Abstract

Variants in MBTPS1 (membrane-bound transcription factor peptidase, site 1) encoding the protein convertase site-1 protease (S1P) were recently reported in a single individual with skeletal dysplasia and elevated plasma lysosomal enzymes. Here, we report the second individual with this newly described autosomal recessive spondyloepiphyseal dysplasia (OMIM #618392), presenting severe growth retardation, cataract and dysmorphic features, mainly retromicrognathia. Epilepsy and craniosynostosis were novel findings in our proband. She was found to be homozygous for a novel nonsense variant p.Trp983Ter in MBTPS1. In addition, she had normal levels of lysosomal enzyme activity in leukocytes but elevated levels in plasma. Our description confirms the existence of this new skeletal dysplasia and expands the phenotype and genotype of the disease.

Original language	English (US)
Pages (from-to)	1796-1800
Number of pages	5
Journal	American Journal of Medical Genetics, Part A
Volume	182
Issue number	7
DOIs	https://doi.org/10.1002/ajmg.a.61614
State	Published - Jul 1 2020

Keywords

MBTPS1
cataract
retromicrognathia
site-1 protease (S1P)
spondylepimetaphyseal dysplasia

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1",

abstract = "Variants in MBTPS1 (membrane-bound transcription factor peptidase, site 1) encoding the protein convertase site-1 protease (S1P) were recently reported in a single individual with skeletal dysplasia and elevated plasma lysosomal enzymes. Here, we report the second individual with this newly described autosomal recessive spondyloepiphyseal dysplasia (OMIM #618392), presenting severe growth retardation, cataract and dysmorphic features, mainly retromicrognathia. Epilepsy and craniosynostosis were novel findings in our proband. She was found to be homozygous for a novel nonsense variant p.Trp983Ter in MBTPS1. In addition, she had normal levels of lysosomal enzyme activity in leukocytes but elevated levels in plasma. Our description confirms the existence of this new skeletal dysplasia and expands the phenotype and genotype of the disease.",

keywords = "MBTPS1, cataract, retromicrognathia, site-1 protease (S1P), spondylepimetaphyseal dysplasia",

author = "Carvalho, {Daniel R.} and Speck-Martins, {Carlos E.} and Brum, {Jaime M.} and Ferreira, {Carlos R.} and Sobreira, {Nara L.M.}",

note = "Funding Information: We sincerely thank the family members for their participation and their permission to publish the clinical data. The authors are grateful to all professionals of SARAH Brasilia Hospital by the assistance with our proband and support for data interpretation. The work was funded in part by the Baylor‐Hopkins Center for Mendelian Genomics (NHGRI UM1 HG006542). Publisher Copyright: {\textcopyright} 2020 Wiley Periodicals, Inc.",

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AU - Ferreira, Carlos R.

AU - Sobreira, Nara L.M.

N1 - Funding Information: We sincerely thank the family members for their participation and their permission to publish the clinical data. The authors are grateful to all professionals of SARAH Brasilia Hospital by the assistance with our proband and support for data interpretation. The work was funded in part by the Baylor‐Hopkins Center for Mendelian Genomics (NHGRI UM1 HG006542). Publisher Copyright: © 2020 Wiley Periodicals, Inc.

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N2 - Variants in MBTPS1 (membrane-bound transcription factor peptidase, site 1) encoding the protein convertase site-1 protease (S1P) were recently reported in a single individual with skeletal dysplasia and elevated plasma lysosomal enzymes. Here, we report the second individual with this newly described autosomal recessive spondyloepiphyseal dysplasia (OMIM #618392), presenting severe growth retardation, cataract and dysmorphic features, mainly retromicrognathia. Epilepsy and craniosynostosis were novel findings in our proband. She was found to be homozygous for a novel nonsense variant p.Trp983Ter in MBTPS1. In addition, she had normal levels of lysosomal enzyme activity in leukocytes but elevated levels in plasma. Our description confirms the existence of this new skeletal dysplasia and expands the phenotype and genotype of the disease.

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Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1

Abstract

Keywords

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