Molecular analysis of SALL1 (ital) mutations in Townes-Brocks syndrome

Article Abstract:

Townes-Brocks syndrome (TBS), an autosomal dominantly inherited malformation syndrome, is caused by mutations in the putative zinc finger transcription factor gene SALL1 (ital). Twenty-three families with TBS or similar phenotypes have been studied for SALL1 (ital) mutations to determine the spectrum of SALL1 (ital) mutations and to look into genotype-phenotype correlation. In nine of the families mutations exist, none previously described. Two were nonsense mutations and five are short deletions. All were in the the area 5' of the first double zinc finger (DZF) encoding region and predicted to bring on putative prematurely terminated proteins lacking all DZF domains. It seems only SALL1 (ital) mutations that take out DZF domains bring on TBS. In rare cases SALL1 mutations seem to lead to phenotypes like Goldenhar syndrome. Phenotypic variation in TBS seems not to be dependent on mutation site.

United Kingdom, Italy, United States, Netherlands, Germany, Switzerland, Czech Republic, Belgium, Usage, Birth defects, Chromosome mapping, Mutation (Biology), Mutation, Genetic disorders

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ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia

Article Abstract:

ZFYVE27, a novel member of the FYVE-finger family of proteins, is reported as a specific spastin-binding protein and the interaction by both in vivo coimmunoprecipitation and colocalization experiments in mammalian cells are validated. The specific mutation in ZFYVE27 affects neuronal intracellular trafficking in the corticospinal tract, which is consistent with the pathology of hereditary spastic paraplegia (HSP).

Protein binding, Mammals

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Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

Article Abstract:

Six different mutations are identified in the receptor expression-enhancing protein 1 gene (REEP1) for the novel SPG31 locus on chromosome 2p12. REEP1 mutations have occurred in 6.5% of the patients with hereditary spastic paraplegia (HSP) and it is shown that REEP1 is widely expressed and localized at mitochondria, which has underlined the importance of mitochondrial function in neurodegenerative disease.

Gene expression, Paralysis, Spastic, Spastic paraplegia

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