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

Autor: Carvalho DR; SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil., Speck-Martins CE; SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil., Brum JM; SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil., Ferreira CR; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Sobreira NLM; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jul; Vol. 182 (7), pp. 1796-1800. Date of Electronic Publication: 2020 May 18.
DOI: 10.1002/ajmg.a.61614
Abstrakt: 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.
(© 2020 Wiley Periodicals, Inc.)
Databáze: MEDLINE
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