LAUSR

Rab18 Collaborates with Rab7 to Modulate Lysosomal and Autophagy Activities in the Nervous System: an Overlapping Mechanism for Warburg Micro Syndrome and Charcot-Marie-Tooth Neuropathy Type 2B

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0 Published in 2019 at "Molecular Neurobiology"

DOI: 10.1007/s12035-019-1471-z

Abstract: Mutations in RAB18, a member of small G protein, cause Warburg micro syndrome (WARBM), whose clinical features include vision impairment, postnatal microcephaly, and lower limb spasticity. Previously, our Rab18−/− mice exhibited hind limb weakness and… read more here.

Keywords: micro syndrome; warburg micro; autophagy activities; charcot marie ... See more keywords

Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1

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1 Published in 2021 at "Human Genome Variation"

DOI: 10.1038/s41439-021-00171-9

Abstract: In this study, we detected a novel pathogenic variant and a previously reported variant in RAB3GAP1 by whole-exome sequencing (NM_001172435.2: c.1552C>T, p.Gln518*; c.1471C>T, p.Arg491*). The first patient is a 3-year-old girl who presented with bilateral… read more here.

Keywords: syndrome cases; micro syndrome; warburg micro; two novel ... See more keywords

Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?

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1 Published in 2018 at "Ophthalmic Genetics"

DOI: 10.1080/13816810.2018.1432065

Abstract: ABSTRACT Background: Warburg micro syndrome is a very rare autosomal recessive disorder characterized by a mutation in the RAB3GAP1, RAB3GAP2, RAB18, and TBC1D20 genes. Warburg Micro syndrome 2 and Martsolf syndrome are clinically overlapping conditions… read more here.

Keywords: syndrome martsolf; martsolf syndrome; micro syndrome; warburg micro ... See more keywords

Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome.

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1 Published in 2023 at "Clinical dysmorphology"

DOI: 10.1097/mcd.0000000000000454

Abstract: Warburg micro syndrome (WARBM) is a rare, autosomal recessive, neurodevelopmental disorder characterized by microcephaly, cortical dysplasia, corpus callosum hypoplasia, congenital hypotonia leading to subsequent spastic quadriplegia, severe developmental delay and hypogenitalism. Ophthalmologic findings that may… read more here.

Keywords: micro syndrome; chromosome 3q29; warburg micro; novel homozygous ... See more keywords

Novel RAB3GAP1 Mutations Causing Warburg Micro Syndrome in Two Italian Sisters

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1 Published in 2017 at "Journal of Pediatric Neurosciences"

DOI: 10.4103/jpn.jpn_45_17

Abstract: This report details two novel RAB3GAP1 mutations causing Warburg Micro syndrome, a rare autosomal recessive disorder characterized by multiple organ abnormalities involving the ocular, nervous, and endocrine systems. Two Italian sisters were referred to our… read more here.

Keywords: mutations causing; warburg micro; micro syndrome; novel rab3gap1 ... See more keywords