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

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)1796-1800
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume182
Issue number7
DOIs
StatePublished - Jul 1 2020

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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