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Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series.
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Department of Pediatrics, Division of Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA.
Background: Multiple sulfatase deficiency (MSD) is an exceptionally rare neurodegenerative disorder due to the absence or deficiency of 17 known cellular sulfatases. The activation of all these cellular sulfatases is dependent on the presence of the formylglycine-generating enzyme, which is encoded by the SUMF1 gene. Disease-causing homozygous or compound heterozygous variants in SUMF1 result in MSD.
View Article and Find Full Text PDFThe clinical outcome of implantable collamer lens in corneal ectasia post astigmatic keratotomy.
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King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia. Electronic address:
Introduction: Implantable collamer lens (ICL) is a posterior chamber phakic intraocular lens. It is usually indicated for high refractive error correction that cannot be treated by laser vision correction due to physical limitations.
Case Presentation: 39 years old male with a past ocular history of keratoconus underwent astigmatic keratotomy followed by crosslinking in both eyes a couple of years later due to signs of corneal ectasia progression.
Generation and heterozygous repair of human iPSC lines from two individuals with the neurodevelopmental disorder, TRAPPC4 deficiency.
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Murdoch Children's Research Institute, Parkville, Victoria, Australia; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia. Electronic address:
A rare neurodevelopmental disorder has been linked to a well-conserved splice site variant in the TRAPPC4 gene (c.454 + 3A > G), which causes mis-splicing of TRAPPC4 transcripts and reduced levels of TRAPPC4 protein. Patients present with severe progressive neurological symptoms including seizures, microcephaly, intellectual disability and facial dysmorphism.
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