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Table 5 Genes implicated in mullerian development are shown from mouse and human studies, including the 3;16 translocation. Genes in bold reside within regions of homozygosity in ≥ 2 MRKH patients

From: Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia

Mouse studies

Wnt4, Lhx1, Emx2, Pbx2 Wnt9b, Pax2, Wnt5a, Rar, Rxr, Tp63, Wnt7a, Hoxa9, Hoxa10, Hoxa11, Hoxa12, Hoxa13

Human Studies

WNT4, HNF1B, ZNHIT3, WT1, CFTR , WNT7A, GALT, HOXA7, PBX1, HOXA10, AMH, AMHR, RARG, RXRA, CTNNB1, PAX2, LAMC1, DLGH1, SHOX,MMP14, LRP10, WNT9B PBX1, LHX1, RBM8A , TBX6

Human Translocation

CMTM7, CCR4 , IL32, MEFV, TRIM71, CNOT10 , ZNF200, OR1F1, ZNF213, ZNF205

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Molecular Cytogenetics

ISSN: 1755-8166