V. Reid Sutton, M.D.
Associate Professor of Molecular and Human Genetics
B.A., Transylvania University, 1988
M.D., University of Kentucky, 1992
Resident, Pediatrics, Washington University, 1996
Fellow, Medical Genetics, Baylor College of Medicine, 1999
American Board of Medical Genetics: Clinical Genetics and Clinical Biochemical Genetics
Member, American Society of Human Genetics
Fellow, American College of Medical Genetics; Member of Professional Practice and Guidelines Committee
Member, International Skeletal Dysplasia Society
Member, Society of Inherited Metabolic Diseases
Aicardi syndrome, Focal Dermal Hypoplasia (Goltz syndrome), skeletal dysplasias (Osteogenesis Imperfecta), and inborn errors of metabolism
I am a clinical geneticist with special interests in Aicardi syndrome, Focal Dermal Hypoplasia (Goltz syndrome), skeletal dysplasias (Osteogenesis Imperfecta), and inborn errors of metabolism.
Osteogenesis Imperfecta & Skeletal Dysplasias: I am the Co-Director for the Osteogenesis Imperfecta Foundation’s Linked Clinical Research Centers (LCRC); this is a consortium of six clinical sites across the United States and Canada, a core laboratory for DNA and collagen testing and data collection and analysis center. The initial project is a longitudinal study of OI and it is anticipated that additional therapeutic studies will be added. As one of three clinical geneticists who launched the multidisciplinary skeletal dysplasia clinic at Texas Children's Hospital. In conjunction with staff from orthopedics, radiology, endocrinology, and neurology, we provide care to children and adults with skeletal dysplasias and disorders of bone and mineral metabolism.
Aicardi Syndrome: Aicardi syndrome is an x-linked disorder that affects multiple organ systems. Common features of Aicardi syndrome include absence or hypoplasia of the corpus callosum, chorioretinal lacunae, seizures, polymicrogyria, heterotopia and vertebral anomalies. Affected individuals are females or males who have a 47,XXY chromosome constitution. I am the clinical geneticist in a multidisciplinary effort to characterize the phenotype of Aicardi syndrome and identify the gene that causes Aicardi syndrome.
Focal Dermal Hypoplasia: Focal dermal hypoplasia (FDH), also known as Goltz syndrome (OMIM 305600), is a genetic disorder that affects multiple organ systems early in development. Features of FDH include skin abnormalities, (hypoplasia, atrophy, linear pigmentation and herniation of fat through dermal defects); papillomas of the mucous membranes; patterning defects of the hands and feet, including syndactyly, polydactyly, camptodactyly and oligodactyly; osteopathia striata; colobomas and other ocular abnormalities; and hypodontia/oligodontia. FDH displays X-linked dominant inheritance; 95 percent of cases are sporadic and only 10 percent of cases are males. We have recently demonstrated that most cases of FDH are due to mutations in PORCN, a gene that is required for the post-translational modification and secretion of Wnt proteins. I am the clinical geneticist in a multidisciplinary effort to characterize the phenotype of FDH.
Inborn Errors of Metabolism: As an attending physician in the metabolic clinic at Texas Children's Hospital, I endeavor to provide state-of-the-art medical care and diagnostic services to patients with a broad range of metabolic diseases.
- Sutton VR, Bree AF, van Bokhoven H: Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome GeneReview (June 2010) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.genetests.org.
- Sutton VR, Van den Veyver IB. (Updated 05/15/2008). Focal Dermal Hypoplasia. In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle. 1997-2008. Available at http://www.genetests.org.
- Sutton VR, Van den Veyver IB (April 2010). Aicardi Syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2010. Available at http://www.genetests.org.
- Douglas G, Axelrad ME, Brandt ML, Crabtree E, Dietrich JE, French S, Gunn S, Karaviti L, Lopez ME, Macias CG, McCullough LB, Suresh D, Austin E, Reid Sutton V (2012). Guidelines for evaluating and managing children born with disorders of sexual development. Pediatr. Ann. 41(4): e1-7. PubMed PMID: 22494213
- Sutton VR, Chapman KA, Gropman AL, MacLeod E, Stagni K, Summar ML, Ueda K, Ah Mew N, Franks J, Island E, Matern D, Peña L, Smith B, Urv T, Venditti C, Chakarapani A (2012). Chronic management and health supervision of individuals with propionic acidemia. Mol. Genet. Metab. 105(1): 26-33. Review. PubMed PMID: 21963082
- Fernandes PH, Wen S, Sutton VR, Ward PA, Van den Veyver IB, Fang P (2010). PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing. Genet. Test Mol. Biomarkers 14(5): 709-13. PubMed PMID: 20854095
- 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
- Sutton VR, Plunkett K, Dang DX, Lewis RA, Bree AF, Bacino CA (2009). Craniofacial and anthropometric phenotype in ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (Hay-Wells syndrome) in a cohort of 17 patients. Am. J. Med. Genet. A. 149A(9): 1916-21. PubMed PMID: 19676059
- 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
- Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark G (2008). Neuroimaging aspects of Aicardi syndrome. Am. J. Med. Genet. A. 146A(22): 2871-8. PubMed PMID: 18925666
- Glasmacher MAK, Sutton VR, Hopkins BJ, Eble T, Lewis RA, Park-Parsons D, Van den Veyver IB. Phenotype and management of Aicardi syndrome: New findings from a survey of 69 children. J. Child Neurol. 22(2): 176-84. PubMed PMID: 17621479
- Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR (2007). Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics. Am. J. Med. Genet. A. 143A(15): 1679-86. PubMed PMID: 17607705
- 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
- Sutton VR, Hopkins BJ, Gambhir N, Lewis RA, Van den Veyver IB (2005). Facial and physical features of Aicardi syndrome: Infants to teenagers. Am. J. Med. Genet. A. 138A(3): 254-8. PubMed PMID: 16158440
- Sutton VR, McAlister WH, Bertin TK, Kaffe S, Wang JC, Yano S, Shaffer LG, Lee B, Epstein CJ, Villar AJ (2003). Skeletal Defects in Paternal Uniparental Disomy for Chromosome 14 are Recapitulated in the Mouse Model (Paternal Uniparental Disomy 12). Hum. Genet. 113(5): 447-51. PubMed PMID: 12938037
V. Reid Sutton, M.D.
Director, ABMG Diagnostic Laboratory Training Programs
Texas Children's Hospital
6701 Fannin St. Suite 1560.10
Houston, Texas 77030, U.S.A.