Table 2.
Alternative diagnoses in those individuals with a clinical diagnosis of Dubowitz syndrome.
| Case ID | Gene | Variants | Alternative Diagnosis (OMIM#) | Inheritance | Year of first reference of gene to phenotype |
|---|---|---|---|---|---|
| DubS21 | BRCA1 | ENST00000357654.9 c.594_597delTGTG;5095C>T, ENSP00000418960 (p.Ser198ArgfsX35;Arg1699Trp) | Fanconi Anemia S (617883) | Autosomal recessive (compound heterozygous) | 2013 |
| DubS22 | HDAC8 | Arr chrXq13.1–13.2 (71632632–72449647*) | Cornelia de Lange 5 (33082) | X-linked de novo | 2012 |
| DubS24 | CREBBP | ENST00000262367.10,c.5612–5614del, ENSP00000262367, p.1871_1872del | Menke-Hennekam Syndrome 1 (618332) | De novo dominant | 2016 |
| DubS26 | SLC35C1 | ENST00000314134.4, c.887A>G, ENSP00000313318, p.His296Arg | Congenital disorder of glycosylation, type IIc (266265) | Autosomal recessive (homozygous) | 2001 |
| DubS28 | ARID1B | ENST00000350026.10, :c.5737C>T, ENSP00000344546, p.Arg1913Ter | Coffin-Siris 1 (135900) | De novo dominant | 2011 |
| DubS29 | ARID1A | Arr 1p36 (27,001,498–27,110,331)x3 | ARID1A duplication associated intellectual disability syndrome | De novo dominant | 2017 |
| DubS30 | SKIV2L | ENST00000375394.7, c.235C>T, ENSP00000364543, p.Arg79Ter | Trichohepatoenteric syndrome 2 (614602) | Autosomal recessive (homozygous) | 2012 |
| DubS11 | POGZ | ENST00000271715.2:c.1679–3C>G (splice region variant) | White-Sutton syndrome (616364) | De novo dominant | 2016 |
| DubS12 | TAF1 | ENST00000276072.3:c.61A>T; ENSP00000276072.3:p.Met21Leu | X-linked syndromic intellectual disability Type 33 (300966) | X-linked de novo | 2015 |
| DubS1 | HDAC8 | ENST00000373568.2:c.638–2A>G (splice acceptor variant) | Cornelia de Lange 5 (30082) | X-linked de novo | 2012 |
| DubS18 | VCX-PUDP-STS-PNPLA4 | Arr Xp22.31 (6454182–8115193)x1 | X-linked deletion syndrome | X-linked | 2013 |
| DubS6 and DubS7 | VPS13B | Arr 8q22.2 (99096530–99142877)x4 | Cohen syndrome (216550) | Autosomal recessive | 2003 |
| DubS2 | NSUN2 | ENST00000264670.6:c.1903A>G/c.529C>T ENSP00000264670.6: p.Asn635Asp/p.His177Tyr | Autosomal recessive intellectual disability type 5 (611091) | Autosomal recessive (compound heterozygote) | 2012 |
*
Coordinates have been converted to GRCh37/Hg19 with liftover (available at https://genome.ucsc.edu/util.html)