Description
This interstitial deletion of 15q26.1 involves multiple OMIM genes and is expected to cause phenotypic and/or developmental abnormalities. This locus falls within a much larger chromosomal region that is associated with the 15q26-qter deletion syndrome (OMIM 612626). Several similar or smaller deletions, mostly de novo, within 15q26.1 or 15q26.1-26.2 have been reported in individuals with a spectrum of phenotypes including epilepsy, intellectual disability, facial dysmorphism, minor physical anomalies, developmental delay, and/or speech delay (Veredice et al., Epilepsia. 2009 Jul;50(7):1810-5. PMID: 19486360; Dhamija et al., Pediatr Neurol. 2011 Jul;45(1):60-2. PMID: 21723464; Li et al., Am J Med Genet A. 2008 Feb 1;146A(3):368-75. PMID: 18203177). RGMA (OMIM 607362) and ST8SIA2 (OMIM 602546) at 15q26.1 have been suggested as candidate genes for the seizure phenotype. Additionally, haploinsufficiency, via loss-of-function sequence variants of CHD2 is associated with childhood-onset epileptic encephalopathy (OMIM 615369). This large deletion also includes other OMIM genes that are associated with autosomal dominant phenotypes: POLG (OMIM 157640), and RLBP1 (OMIM 136880).
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | germline | unknown | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |
