PLA2G6 mutation underlines infantile neuroaxonal dystrophy

Article Abstract:

Individuals from two unrelated Bedouin Israeli kindreds, affected by infantile neuroaxonal dystrophy, which is an autosomal recessive progressive neurodegenerative disease are studied. Diffuse cerebellar atrophy and abnormal iron deposition in the medical and lateral globus pallidum is observed in brain imaging and progressive white-matter disease and reduction of the N-acetyl alpartate:chromium ration are evident on magnetic resonance spectroscopy, suggesting loss of mynellnation.

Care and treatment, Usage, Diagnosis, Brain, Nuclear magnetic resonance spectroscopy, Brain injuries

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Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes [PIPKI.sub.[gamma]] of the phophatidylinsitol pathway

Article Abstract:

A novel arthrogryposis phenotype lethal contractural syndrome type 3 (LCCS3) that is identical to LCCS2 except for the absence of a neurogenic bladder is described.

Genetic aspects, Bladder diseases, Arthrogryposis

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Lethal congenital contractural syndrome type 2 (LCCS2) is caused by a mutation in ERBB3 (Her3), a modulator of the phosphatidylinositol-3-kinase/akt pathway

Article Abstract:

The article highlights that lethal congenital contractural syndrome is caused by aberrant splicing of ERBB3, which leads to a predicted truncated protein.

Science & research, Research, Gene mutations, Gene mutation, Lethal mutation

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