Ontology highlight
ABSTRACT:
SUBMITTER: Carvalho DR
PROVIDER: S-EPMC8136467 | biostudies-literature | 2020 Jul
REPOSITORIES: biostudies-literature
Carvalho Daniel R DR Speck-Martins Carlos E CE Brum Jaime M JM Ferreira Carlos R CR Sobreira Nara L M NLM
American journal of medical genetics. Part A 20200518 7
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 ...[more]