Clinical utility gene card for: 15q13.3 microdeletion syndrome

Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome

“…15q13.3 microdeletion syndrome (OMIM #612001) is caused by small deletions in the extremely unstable q13.2–q13.3 region of chromosome 15, and is implicated in multiple neurodevelopmental disorders (Tropeano et al, 2014), (Lowther et al, 2014). This chromosomal region contains seven genes and is flanked by a breakpoint (BP) on each side.…”

“…The breakpoints are marked by clusters of low copy repeat (LCR) elements, which are vulnerable to inversion and subsequent non-allelic homologous recombination (NAHR), resulting in deletion of the involved region (Gillentine & Schaaf, 2015). Most clinical cases of this syndrome present with microdeletions occurring between BP4 and BP5 (Tropeano et al, 2014). About 80% of patients with this syndrome have one or more neuropsychiatric diagnoses, with 57.5% diagnosed with developmental disability/intellectual disability, 10.9% diagnosed with autism spectrum disorder, 15.9% diagnosed with speech problems, and 6.5% diagnosed with attention deficit hyperactivity disorder (ADHD) (Lowther et al, 2014).…”

An efficient screening method for simultaneous detection of recurrent copy number variants associated with psychiatric disorders

“…The rate of carriers is expected to be considerably lower in schizophrenia, although a study on prospectively recruited community-based sample of 459 unrelated schizophrenia patients identified 8.1% of putatively clinically significant CNVs, opening the debate about the convenience of genomic microarray testing in schizophrenia [8]. Meanwhile, the existence of a cheap and accurate screening method for detection of the well-defined pathogenic CNVs may be an alternative option, as proposed earlier [19], taking into account its relevance in the context of genetic counseling and management of carriers [20][21][22].…”

“…Our method may be very useful in applications such as identification of carriers of these CNVs to characterize phenotypes affected by the CNVs related to physical health of psychiatric patients, such as nephropathies, obesity, hypotonia, or cardiac problems [21][22][23] as well as screening of samples of different neuropsychiatric disorders to fully delineate the range of clinical variability associated with each one of these CNVs. To this goal, we are currently applying the new version of the assays to screen collections of different psychiatric disorders.…”

15q13.3 duplication in two patients with childhood‐onset schizophrenia

“…The deletion increases risk of developmental delay (DD) [Sharp et al, ], adult onset schizophrenia (AOS) [Consortium, ; Stefansson et al, ], COS [Ahn et al, ], epilepsy [Helbig et al, ], bipolar disorder (BPD) [Leonard and Freedman, ], and autism spectrum disorder (ASD) [Miller et al, ]. Penetrance of this CNV was estimated independently at 40% (95%CI [21, 72]) and 44% (95%CI [29, 63]) [Kirov et al, ; Tropeano et al, ]. Though the heterogeneous phenotypic presentation and penetrance of the 15q13.3 deletion syndrome has been fairly well‐established, the clinical significance and pathogenicity—the presentation of neurodevelopmental disorders—of the corresponding duplication at the 15q13.3 locus is less understood, due in part to its relative rarity.…”