Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus–Merzbacher disease

Genetic Mutations that Cause Coronary Artery Disease

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

Progressive limb spasticity and cerebellar ataxia are frequently found together in clinical practice and form a heterogeneous group of degenerative disorders that are classified either as pure spastic ataxia or as complex spastic ataxia with additional neurological signs. Inheritance is either autosomal dominant or autosomal recessive. Hypomyelinating features on MRI are sometimes seen with spa...

Is RARS-T a new disease entity or a subtype of RARS or ET?

which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. Is RARS-T a new disease entity or a subtype of RARS or ET? TO THE EDITOR: A recent report of " JAK2 V617F mutation in myelodysplastic syndrome, myelodysplastic syndrome/myelo-proliferative neoplasm, unclassifiable, refractory anemia with ring sideroblasts wi...

The role of JAK2 mutations in RARS and other MDS.

Acquired sideroblastic anemia with unilineage dysplasia (WHO RARS) is a clonal stem cell disorder characterized by erythroid dysplasia, mitochondrial accumulation of mitochondrial ferritin, defective erythroid maturation and anemia. A fraction of these patients also show elevated platelet counts; since 2001 this has been defined as RARS with marked thrombocytosis (RARS-T). It has recently been ...

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

The exosome is a multi-protein complex, required for the degradation of AU-rich element (ARE) containing messenger RNAs (mRNAs). EXOSC8 is an essential protein of the exosome core, as its depletion causes a severe growth defect in yeast. Here we show that homozygous missense mutations in EXOSC8 cause progressive and lethal neurological disease in 22 infants from three independent pedigrees. Aff...