The nuclear factor [kappa]B-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset

Article Abstract:

The identification of the Pleckstrin homology domain-containing, family G member 5 gene, PLEKHG5, located within the candidate region that is mutated in this pedigree is presented. The loss of PLEKHG5 function and aggregate formation has contributed to the neurotoxicity in a form of lower motor neuron disease (LMND) with childhood onset.

United States, Motor neuron disease, Pedigree analysis

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Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16

Article Abstract:

A family with a novel autosomal-dominantly inherited syndrome characterized by microtia, eye coloboma, and imperforation of the nasolacrimal duct is presented. It is concluded that it is the first Mendelian inherited genetic disorder associated with the amplification of a copy-number variation (CNV).

Causes of, Physiological aspects, Genetic disorders, Coloboma, Nasolacrimal ducts

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