Article
Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings.
European journal of medical genetics - 1 Jan 2000
Spielmann Malte, Reichelt Gabriele, Hertzberg Christoph, Trimborn Marc, Mundlos Stefan, Horn Denise, Klopocki Eva
Abstract excerpt
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 ∼1.5 Mb at the 15q13.3 locus. They presented with congenital retinal dysfunction, refractory...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.