ClinGen Dosage Sensitivity Curation Page

EMX2

  • Curation Status: Complete

Location Information

  • 10q26.11
  • GRCh37/hg19 chr10: 119,301,956-119,309,057
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr10: 117,542,445-117,549,546
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000010.10) (NC_000010.11)
  • Haploinsufficiency score: 2
  • Strength of Evidence (disclaimer): Some evidence for dosage pathogenicity
  • Haploinsufficiency Phenotype: SCHIZENCEPHALY
Evidence for haploinsufficiency phenotype
PubMed ID Description
8528262 Brunelli (1996): A report of 3 de novo loss of function mutations in patients with schizencephaly. The same group also reported on additional mutations in 7 individuals (2 brothers) with schizencephaly (Faiella, 1997, PMID: 9359037). However, these results were not replicated by subsequent studies (Hehr, 2010, PMID: 20157829, and Merello, 2008, PMID: 18409201). Only 2 of these mutations were clear loss-of-function mutations (one invariant splice acceptor mutation and one frameshift mutation - both reportedly de novo).
18409201 Merello (2008): The authors provide data from 39 patients with schizencephaly and reinterpretation of the data published by Brunelli (1996) and Faiella (1997). They did not find any mutations in their patient series. In addition, they question the findings from Brunelli and Faiella and concluded that many of the sequence changes they reported were likely not pathogenic. They acknowledge that there are up 4 potential loss of function mutations in EMX2 in patients with schizencephaly, 2 of which are clearly loss-of-function.

Haploinsufficiency phenotype comments:

Schizencephaly

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity