非表示:
キーワード:
Abnormalities, Multiple/*genetics; Adult; Cell Cycle Proteins/*genetics; Child; *Chromosome Deletion; Chromosomes, Human, Pair 15/*genetics; Female; Homozygote; Humans; Intellectual Disability/genetics; Kruppel-Like Transcription Factors/*genetics; Male; Muscle Hypotonia/genetics; Phenotype; Receptors, Nicotinic/*genetics; Repressor Proteins/*genetics; Retinal Diseases/genetics; Seizures/genetics; TRPM Cation Channels/*genetics
要旨:
The heterozygous 15q13.3 microdeletion syndrome (MIM #612001) was first described by Sharp et al. in 2008. So far four patients with 15q13.3 homozygous or compound heterozygous microdeletions have been identified. Here we report a non-consanguineous family with two affected siblings carrying a homozygous microdeletion of approximately 1.5 Mb at the 15q13.3 locus. They presented with congenital retinal dysfunction, refractory epilepsy, encephalopathy, mental retardation, repetitive hand movements, severe muscular hypotonia and macrocytosis. Dysmorphic facial features are synophrys and bilateral proptosis. The siblings carry a homozygous microdeletion at 15q13.3 of approximately 1.5 Mb including the genes ARHGAP11B, MTMR15, MTMR10, TRPM1, KLF13, OTUD7A, and CHRNA7. The absence of CHRNA7 has been suggested as a cause of refractory seizures. According to knock-out experiments the deletion of KLF13 could be an explanation for macrocytosis. The homozygous loss of TRPM1 could be a possible explanation for congenital retinal dysfunction.
