Myoclonus in a patient with a deletion of the ε‐sarcoglycan locus on chromosome 7q21

摘要: Autosomal dominant myoclonus-dystonia syndrome (MDS) is characterized by myoclonic and/or dystonic movements with onset as early infancy. In most families, MDS caused mutations in the gene SGCE, which encodes epsilon -sarcoglycan and located on chromosome 7q21. Data from several sources, including multi-generation pedigrees revealing parent-of-origin effects penetrance, suggest that SGCE maternally imprinted. We present a 32-month-old patient an interstitial deletion affecting 7q21, phenotype myoclonus, microcephaly, short stature, dysmorphic face language delay. used fluorescence situ hybridization (FISH) to estimate size of our patient's (9.0-15 Mbp) confirm absence affected chromosome. Polymerase chain reaction (PCR) analysis polymorphic markers region revealed paternally inherited contained deletion, consistent model maternal imprinting. Our first case complete represents new contiguous disorder. The underscores need consider chromosomal deletions patients whose phenotypes are more complex than classic presentation known disease.