Table 7.
Subject | Gene(s) of Interest according to Sequencing Results | Interpretation of the Sequencing Results | Clinical Significance | Clinical Outcome |
---|---|---|---|---|
DGAP239 |
CHD7 (disrupted), LMBRD1 (disrupted) |
disruption of an autosomal-dominant gene with a low haploinsufficiency index and associated with CHARGE syndrome (pathogenic) and an autosomal-recessive gene (non-contributory) | pathogenic | CHARGE syndrome |
DGAP247 | KHDRBS3 (disrupted) | disruption of a single gene without pathogenicity | unknown, likely to be benign | healthy newborn |
DGAP248 | LRRTM4, RFC3 (disrupted), NBEA | disruption of a gene with a low haploinsufficiency index but no reported pathogenicity; potential dysregulation of an additional gene with a low haploinsufficiency index and reported to be associated with autism-like behaviors in animal models and disrupted in a subject with idiopathic autism45, 46 | unknown | termination prior to communication of sequencing results |
DGAP258 | – | non-genic breakpoints with cryptic paternal inversion not at the karyotypically detected breakpoint | unknown, likely to be benign | healthy newborns |
DGAP259 | CNTN6 (disrupted), CNTN4, TBC1D5 (disrupted), SATB1, MEF2C, CETN3, CNTNAP2 (disrupted), CUL1, EZH2, SHH, PTPRD (disrupted), L3MBTL4 (disrupted), TCF4, WDR7 (disrupted), NEDD4L | complex rearrangement with potential dysregulation of genes with a low haploinsufficiency index and associated with malformation in the CNS and chromatin organization | pathogenic | termination due to multiple abnormal prenatal findings (bilateral ventriculomegaly and colpocephaly with partial agenesis of the corpus callosum) |
DGAP268 |
CPEB3 (disrupted) |
disruption of a single gene without known pathogenicity and a cryptic inversion at non-genic breakpoints | unknown, likely to be benign | healthy newborn |
DGAP285 |
FAM104B (disrupted), MTM1 |
disruption of a single gene without known pathogenicity; disruption of a TBR with potential dysregulation of a gene associated with X-linked myotubular myopathy, a prenatal-onset fatal disease | unknown, likely to be pathogenic | intrauterine fetal demise (overlapping findings with X-linked myotubular myopathy include decreased fetal movements, hydrocephalus, and stillbirth) |
DGAP288 | SOX9 | non-genic breakpoints with dysregulation of a gene with a low haploinsufficiency index and known to be associated with Pierre Robin sequence | pathogenic | Pierre Robin sequence |
DGAP290 |
HECW2 (disrupted), NUP205 (disrupted) |
disruption of two genes without known pathogenicity; non-genic cryptic inversion in one of the breakpoints | unknown, likely to be benign | termination after communication of sequencing results |
DGAP295 | GFPT1 (disrupted), IGF2 | complex rearrangement with potential dysregulation of an imprinted gene associated with Silver-Russell syndrome (pathogenic) and a recessively inherited syndromic gene (noncontributory) | pathogenic | small birth weight and failure to thrive (findings consistent with Silver-Russell syndrome) |