Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardation

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

“…This fourth deletion was the smallest in size (144 kb), involved only TRIP12 and FBXO36 and was detected in a 31-month-old male with psychomotor delay and non-specific asymmetric white matter (leukoencephalopathy). Multicystic renal dysplasia and renal insufficiency observed in this DECIPHER subject were consistent with the previous reports on TRIP12 CNV deletions (see Supplementary Table S1 for detailed clinical information) (Doco-Fenzy et al 2008). …”

“…To date, only two interstitial deletion CNVs involving TRIP12 [MIM 604506], encoding a member of the HECT domain E3 ubiquitin ligases family, have been reported in the literature: a de novo ~ 5.4 Mb CNV deletion on 2q36.2q36.3 has been identified in an individual with severe intellectual disability (ID), multiple renal cysts, and dysmorphic features (Doco-Fenzy et al 2008) and a de novo ~ 60 kb deletion involving FBXO36 and the first non-coding exon of TRIP12 has been described in a subject with an autistic spectrum disorder (Pinto et al 2014). An ~ 180 kb CNV duplication encompassing FBXO36 and the 5′ portion of TRIP12 has been reported in an individual with macrocephaly (Figure 1a) (Oikonomakis et al 2016).…”

Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKD

“…It is similarly interesting to note the finding of multiple kidney cysts in a female patient with the rare 2q36 deletion syndrome that involves deletion of 24 genes; COL4A4 and COL4A3 were suggested to be the most plausible candidates for the nephropathy. 9 Although the cystic kidney phenotype may not predominate the clinical presentation of type IV collagen mutationrelated TBM disease, this finding strengthens the likely association between type IV collagen mutations and renal cysts. The observation that all 3 patients with TBM with COL4A4-associated kidney cysts described here had advanced CKD, and the previously reported association of proteinuria with cystic kidneys in TBM disease by Sevillano et al, 6 is supportive for investigating cystic kidney phenotype as a marker of CKD progression and severity in TBM disease.…”

De novo 2q36.1q36.3 interstitial deletion involving the PAX3 and EPHA4 genes in a fetus with spina bifida and cleft palate

“…Including our patient, three cases with a 2q36 deletion were identified using array‐CGH (Table ). The first case reported by Doco‐Fenzy et al () described a 5.6 Mb de novo 2q36.2q36.3 deletion in a patient with severe mental retardation, facial dysmorphism, and multiple renal cysts. This deletion overlaps the deletion found in our patient but excludes the PAX3 and EPHA4 genes.…”