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Molecular and Human Genetics

Houston, Texas

Department of Molecular and Human Genetics
Department of Molecular and Human Genetics
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Ignatia B. Van den Veyver, M.D.

Ignatia B. Van den Veyver, M.D.

Professor of Molecular and Human Genetics
Director of Prenatal Genetics

Other Positions

Professor and Vice Chair of Research, Department of Obstetrics & Gynecology
Co-Director, Program in Translational Biology & Molecular Medicine


M.D., University of Antwerp, 1986
Resident, Obstetrics and Gynecology, University of Antwerp Affiliated Hospitals, Belgium, 1991
Fellow, Maternal-Fetal Medicine, Baylor College of Medicine, 1993
Fellow, Genetics, Baylor College of Medicine, 1996

Research Interests

My lab performs research to find the cause of Aicardi syndrome (AIC) a severe X-linked disorder that only affects girls. Children with AIC have developmental defects of eyes and brain, severe seizures and mental retardation. We are performing high-throughput sequencing studies to search for the mutation that causes AIC and detailed clinical phenotyping in collaboration with other investigators in the department (Dr. V. Reid Sutton and Dr. Richard A. Lewis).

In our second project, we study complete hydatidiform moles (CHM), an abnormal development of the human placenta. Most CHM are diploid androgenetic (AnCHM) with a paternally inherited genome, suggesting that imbalance of imprinted gene expression causes CHM. Our research focuses on the cause of rare recurrent HMs that have a biparentally inherited diploid genome (BiHM) but show generalized defects of imprinting. Mutations in NLRP7 or KHDC3L have been found in women with BiHM pregnancies. We use mice and embryonic stem cell culture models to characterize the function of NLRP7 and its homolog Nlrp2 in reprogramming of imprinting.

In the third project, we investigate in mice the mechanisms by which maternal diet or an adverse prenatal environment affect disease risk in offspring. We found that maternal low protein diet alters muscle growth and expression of cohesins in liver of offspring and are following up on this observation. We are also studying in genetic mouse models for autism whether adverse prenatal exposures, such as inflammation, stress and certain medications (such as oxytocin and antidepressants) worsen the phenotype in offspring and by which mechanisms.

We also study Goltz Syndrome or Focal Dermal Hypoplasia (FDH) an X-linked disorder characterized by variable defects of skin and appendages, skeletal defects, primarily of hands, feet and long bones, as well as other anomalies such as omphalocele and urogenital defects. We found that this disorder is caused by mutations in the PORCN gene in Xp11.23 and have now generated a mouse model with a conditional null mutation in Porcn that we are characterizing. PORCN encodes the human homolog of Drosophila porcupine which is essential for secretion of Wnt and Wnt signaling.

Finally, I am also interested in the clinical application of new cytogenomic technologies for prenatal diagnosis and their role in non-invasive methods for prenatal diagnosis of fetal genetic disorders.

Selected Publications

  1. Mahadevan S, Wen S, Wan Y-W, Peng H-H, Otta S, Liu Z, Iacovino M, Mahen EM, Kyba M, Sadikovic B, Van den Veyver IB (2013). NLRP7 affects trophoblast lineage differentiation, binds to overexpressed YY1 and alters CpG methylation. Hum. Mol. Genet. 23(3): 706-16. PubMed PMID: 24105472 doi: 10.1093/hmg/ddt457
  2. Mahadevan SK, Wen S, Balasa A, Fruhman G, Mateus J, Wagner A, Al-Hussaini T, Van den Veyver IB (2013). No evidence for mutations in NLRP7 and KHDC3L in women with androgenetic hydatidiform moles. Prenat. Diagn., 33(13): 1242-7. PubMed PMID: 24105752 doi: 10.1002/pd.4239
  3. Bi W, Breman A, Shaw CA, Stankiewicz P, Gambin T, Lu X, Cheung SW, Jackson LG, Lupski JR, Van den Veyver IB, Beaudet AL (2012). Detection of ≥1Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays. Prenat. Diagn. 32(1): 10-20. PubMed PMID: 22470934
  4. Liu W, Shaver TM, Balasa A, Ljungberg MC, Wang X, Wen S, Nguyen H, Van den Veyver IB (2012). Deletion of Porcn in mice leads to multiple developmental defects and models human focal dermal hypoplasia (Goltz syndrome). PLoS One 7(3): e32331. PubMed PMID: 22412863
  5. Breman A, Pursley AN, Hixson P, Bi W, Ward P, Bacino CA, Shaw C, Lupski JR, Beaudet A, Patel A, Cheung SW, Van den Veyver I (2012). Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature. Prenat. Diagn. 32(4): 351-61. PubMed PMID: 22467166
  6. Balasa A, Sanchez-Valle A, Sadikovic B, Sangi-Haghpeykar H, Bravo J, Chen L, Liu W, Wen S, Fiorotto ML, Van den Veyver IB (2011). Chronic maternal protein deprivation in mice is associated with overexpression of the cohesin-mediator complex in liver of their offspring. J. Nutr. 141(12): 2106-12. PubMed PMID: 22013202
  7. Wang X, Sutton VR, Eble TN, Lewis RA, Gunaratne P, Patel A, Van den Veyver IB (2009). A genome-wide screen for copy number alterations in Aicardi syndrome. Am. J. Med. Genet. A. 149A(10): 2113-21. PubMed PMID: 19760649
  8. Eble TN, Sutton VR, Sangi-Haghpeykar H, Wang X, Jin W, Lewis RA, Fang P, Van den Veyver IB (2009). Non-random X chromosome inactivation in Aicardi syndrome. Hum. Genet. 125(2): 211-6. PubMed PMID: 19116729
  9. Wang X*, Sutton VR*, Peraza O, Yu Z, Rosetta R, Kou YC, Eble TN, Patel A, Thaller C, Fang P, Van den Veyver IB (2007). Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat. Genet. 39(7): 836-8. *Equal contribution PubMed PMID: 17546030

Contact Information

Ignatia B. Van den Veyver, M.D.
Department of Obstetrics and Gynecology
Baylor College of Medicine
One Baylor Plaza, MS BCM610
Houston, TX, 77030, U.S.A.

Phone: 713-798-4914
Fax: 713-798-2701
Web site: Van den Veyver Lab

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