Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.
Am J Med Genet A
; 182(7): 1796-1800, 2020 07.
Article
en En
| MEDLINE
| ID: mdl-32420688
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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Catarata
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Serina Endopeptidasas
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Enfermedades por Almacenamiento Lisosomal
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Proproteína Convertasas
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Lisosomas
Límite:
Child, preschool
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Female
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Humans
Idioma:
En
Año:
2020
Tipo del documento:
Article