Description
The minimal deleted region in this de novo 16p11.2 deletion contains 12 genes, 9 of which are protein-coding and are OMIM-annotated (ATXN2L, TUFM, SH2B1, ATP2A1, RABEP2, CD19, NFATC2IP, SPNS1, and LAT). Of these, 4 genes are disease-associated; TUFM (autosomal recessive Combined oxidative phosphorylation deficiency 4; MIM#610678), ATP2A1 (autosomal recessive Brody Myopathy; MIM#617514), CD19 (autosomal recessive Immunodeficiency, common variable, 3, MIM# 613493), and LAT (autosomal recessive Immunodeficiency 52, MIM# 617514). Chromosome 16p contains several low copy repeat sequences, called BP1-BP5, and non- homologous recombination between these sequences leads to syndromes associated with recurrent copy number gains and losses. The ~220 Kb deletion observed here is between recurrent breakpoint regions BP2 and BP3 located in the distal region of 16p11.2. The minimal deleted region completely overlaps with 16p11.2 recurrent region (distal, BP2-BP3) (includes SH2B1), which has been curated by ClinGen to have “sufficient evidence for dosage pathogenicity” [https://dosage.clinicalgenome.org/clingen_region.cgi?id=ISCA-37486]. Based on the available evidence, the de novo heterozygous ~220 Kb interstitial 16p11.2 deletion is reported as Pathogenic.
| # | Sample | Method | Observation |
|---|
| Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
|---|
| 1 | de novo | yes | 1 | not provided | not provided | | 1 | not provided | not provided | not provided |
