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Background  A disruption of sorting nexin 3 ( SNX3 ) on 6q21 was previously reported in a patient with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and t(6;13)(q21;q12) but no  SNX3  mutations were identified in another sporadic case of MMEP, suggesting involvement of another gene. In this work,  SNX3  was sequenced in three patients not previously studied for this gene. In addition, we test the hypothesis that mutations in the neighbouring gene  NR2E1  may underlie MMEP and related phenotypes.    Methods  Mutation screening was performed in five patients: the t(6;13)(q21;q12) MMEP patient, three additional patients with possible MMEP or a related phenotype, and one patient with oligodactyly, ulnar aplasia, and a t(6;7)(q21;q31.2) translocation. We used sequencing to exclude  SNX3  coding mutations in three patients not previously studied for this gene. To test the hypothesis that mutations in  NR2E1  may contribute to MMEP or related phenotypes, we sequenced the entire coding region, complete 5' and 3' untranslated regions, consensus splice-sites, and evolutionarily conserved regions including core and proximal promoter in all five patients. Two-hundred and fifty control subjects were genotyped for any candidate mutation.    Results  We did not detect any synonymous nor nonsynonymous coding mutations of  NR2E1  or  SNX3 . In one patient with possible MMEP, we identified a candidate regulatory mutation that has been reported previously in a patient with microcephaly but was not found in 250 control subjects examined here.    Conclusion  Our results do not support involvement of coding mutations in  NR2E1  or  SNX3  in MMEP or related phenotypes; however, we cannot exclude the possibility that regulatory  NR2E1  or  SNX3  mutations or deletions at this locus may underlie abnormal human cortical development in some patients.

Absence of mutations in NR2E1 and SNX3in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes