PubMed ID | Description |
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22511895 | Naik et al. (2012) describe a proband with excessive eating and speech delay. They found a paternally inherited 25 bp tandem duplication in exon 1 of SNURF. The duplication was predicted to cause a frameshift and premature stop codon of SNURF, but was not expected to affect SNRPN. The father also reportedly had excessive eating habits as a child and a mild learning disability. |
Izzi et al. (2012) PMID: 22679513 performed methylation studies of IGF2, H19, SNURF and GRB10 in 17 patients with Albright's Hereditary Osteodystrophy-like phenotype. They found a significant hypomethylation in SNURF in patients (p=0.001). Linking this finding to the clinical finding still needs to be addressed.