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A complex, extended “family” of genetic diseases
Research done at the Crown Human Genome Center in 2012 identified how a mutation in the TECPR2 gene is involved in abnormal autophagy. The scientists classified this disorder — which was observed in three unrelated Jewish Bukharin families that shared similar physical characteristic, low muscle tone, and moderate-to-severe intellectual disability — as a subtype of hereditary spastic paraparesis (HSP).
More recently, the study of this mutation in non-Bukharin patients has led to the discovery of additional pathologies, including blood pressure and pulse imbalance and decreased pain sensitivity, in such individuals. These findings indicate that the prevalence of this mutation might be higher than previously assumed.
The study is of clinical significance because it identifies the TECPR2 mutation as a possible factor in undiagnosed conditions involving intellectual disability in combination with symptoms such as autonomic neuropathy and recurrent pulmonary infections.