Work

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

Year: 2020

Type: article

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.

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.61614

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

Institutions: Sarah Network of Rehabilitation Hospitals, National Institutes of Health, National Human Genome Research Institute, Johns Hopkins University, Johns Hopkins Medicine

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Human Genome Research Institute, Eunice Kennedy Shriver National Institute of Child Health and Human Development