@article {787,
	title = {Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.},
	journal = {Am J Med Genet A},
	volume = {182},
	year = {2020},
	month = {2020 07},
	pages = {1796-1800},
	abstract = {<p>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.</p>},
	keywords = {Cataract, Child, Preschool, Female, Humans, Lysosomal Storage Diseases, Lysosomes, Pedigree, Phenotype, Proprotein Convertases, Serine Endopeptidases},
	issn = {1552-4833},
	doi = {10.1002/ajmg.a.61614},
	author = {Carvalho, Daniel R and Speck-Martins, Carlos E and Brum, Jaime M and Ferreira, Carlos R and Sobreira, Nara L M}
}
@article {436,
	title = {Additional features of Gillespie syndrome in two Brazilian siblings with a novel ITPR1 homozygous pathogenic variant.},
	journal = {Eur J Med Genet},
	volume = {61},
	year = {2018},
	month = {2018 Mar},
	pages = {134-138},
	abstract = {<p>Gillespie syndrome (GS) [MIM: 206700] is a very rare condition characterized by bilateral iris defect, congenital hypotonia, cerebellar ataxia and intellectual disability. The typical iris anomaly is considered necessary to the diagnosis of GS. Recently, variants in ITPR1 were described causing GS. Non-neurological features were reported in few patients. Here we describe two consanguineous siblings with GS and a novel homozygous ITPR1 pathogenic variant (p.N984fs). They also present a cardiac defect (pulmonary valve stenosis) and one sib had a genitourinary malformation (ureteropelvic junction obstruction). Our report reinforces ITPR1 as the cause of GS and suggests a possible role of ITPR1 in the development of other organs.</p>},
	keywords = {Aniridia, Brazil, Cerebellar Ataxia, Child, Preschool, Consanguinity, Female, Homozygote, Humans, Infant, Inositol 1,4,5-Trisphosphate Receptors, Intellectual Disability, Male, Mutation, Pedigree, Siblings},
	issn = {1878-0849},
	doi = {10.1016/j.ejmg.2017.11.005},
	author = {Carvalho, Daniel R and Medeiros, Jo{\~a}o Eugenio G and Ribeiro, Daniela Sebestyan M and Martins, Bernardo J A F and Sobreira, Nara L M}
}
