Clinical and morphological phenotype of HMSN 1A mosaicism

Clinical, neurophysiological and morphological studies on a patient with mosaicism of the 17p11.2 duplication were performed in detail for the first time. Since duplication occurs during paternal meiosis, a somatic reversion is suggested, leading to mosaicism. The proportion of nuclei with duplication varied markedly between 49% in blood cells and 74% in tissue from the sural nerve. Clinically, mild symptoms of a motor and sensory neuropathy were present. However, neurophysiological changes and findings in the sural nerve biopsy were consistent with a typical hereditary motor and sensory neuropathy type 1 (HMSN 1). Differing clinical findings in patients with mosaicism of the 17p11.2 duplication may be explained by a varying degree and/or time of reversion.