Developmental delay could stem from nicotinic recepto...(fficient expression of the nicotinic rec...)

In this study, an international group of researchers identified 10 people from four unrelated families with the same deletion in the chromosome. The area deleted encompasses all of CHRNA7, which encodes a whole subunit of the nicotinic receptor.

Nine of the 10 subjects had developmental delay and/or mental retardation. Four of the 10 had seizure disorders or an abnormal electroencephalogram (EEG).

In two of the families studied, the patients had inherited the deletion from a parent. In one family, researchers found the same deletion in the patient's mother, two siblings, maternal aunt and maternal grandmother. Both the patient's mother and her sister had mental retardation and epilepsy. His both siblings had developmental delay. The patient had severe mental retardation and obesity and mild facial dysmorphism.

A second patient with impaired growth and severe developmental delay inherited her deletion from her mother, who had normal intelligence but had suffered from epilepsy from childhood.

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