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

Autor:	Daniel R. Carvalho, Carlos Ferreira, Carlos E. Speck-Martins, Nara Sobreira, Jaime M. Brum
Rok vydání:	2020
Předmět:	Spondyloepiphyseal dysplasia Proband Spondyloepimetaphyseal dysplasia Protease medicine.medical_treatment Biology medicine.disease Phenotype Molecular biology Article Craniosynostosis Dysplasia Genotype Genetics medicine Genetics (clinical)
Zdroj:	Am J Med Genet A
ISSN:	1552-4833 1552-4825
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3ff8f559eb8d81a23831c25d8e7b8c0 https://doi.org/10.1002/ajmg.a.61614 Zobrazit plný text záznamu Plný text