Assistant Professor, Department of Molecular and Human Genetics
Director, Medical Genetics Residency Program
Medical Director, Biochemical Genetics Laboratory
Director, ABMG Clinical Laboratory Training Programs

B.A.,Transylvania University, 1988
M.D., University of Kentucky, 1992
Resident in Pediatrics, Washington University, 1996
Fellow in Medical Genetics, Baylor College of Medicine, 1999

RESEARCH INTERESTS:
I am a clinical geneticist with special interest in the X-linked disorders Aicardi syndrome and Focal Dermal Hypoplasia (Goltz syndrome), uniparental disomy for chromosome 14 (UPD 14), skeletal dysplasias, and inborn errors of 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% of cases are sporadic and only 10% 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.

UPD 14: Over the past few years, imprinted genes have been identified on a small number of chromosomes through a search for the etiology of various disorders. I am interested in accurately describing the phenotypes of maternal and paternal UPD 14. My goal is to compile an accurate profile for individuals with UPD 14 in order to improve diagnosis and define the prognosis in UPD 14. Identification of the phenotype of UPD 14 will lead to an understanding of the effects of imprinted genes on chromosome 14. I am conducting a study of individuals with UPD 14 in the General Clinical Research Center at Texas Children's Hospital. I will define the phenotype and assess the prognosis of individuals with UPD 14. In collaboration with other researchers, we are attempting to identify imprinted genes on chromosome 14 and understand the phenotypic effects of these imprinted genes.

Skeletal Dysplasias: I am the Co-Director for the Osteogenesis Imperfecta Foundation’s Linked Clinical Research Centers and 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.

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.

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SELECTED PUBLICATIONS:
1. Wang X, Sutton VR, Peraza-Llanes JO, Yu Z, Rosetta R, Kou YC, Eble TN, Patel A, Thaller C, Fang P, Van den Veyver IB. Focal dermal hypoplasia (Goltz syndrome) is caused by loss-of-function mutations in X-linked PORCN, encoding the human homolog of Drosophila Porcupine, a regulator of Wnt signaling. Nat. Genet., in press. [Advanced online publication 6/03/2007]

2. 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, Stankiewics 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., in press.

3. 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., in press. [Epub ahead of print]

4. Sutton VR, Van den Veyver IB. Aicardi syndrome. In GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2006. [Available at http://www.genetests.org]

5. 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. 138: 254-258.

6. Sutton VR, Hyland JC, Phillips WA, Schlesinger AE, Brill PW (2005). A Dominantly Inherited Spondylometaphyseal Dysplasia with “Corner Fractures” and Congenital Scoliosis. Am. J. Med. Genet. 133A: 209-212.

7. 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: 447-451.

8. Murphy SK, Wylie AA, Coveler KJ, Cotter PD, Papenhausen PR, Sutton VR, Shaffer LG, Jirtle RL (2003). Epigenetic detection of human chromosome 14 uniparental disomy. Hum. Mutat. 22: 92-97.

9. Sutton VR, Pan Y, Davis EC, Beaudet AL, Craigen WJ (2003). A Mouse Model of Argininosuccinic Aciduria: Biochemical Characterization. Mol. Genet. Metab. 78: 11-16.

For more publications, see listing on Pub Med.

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CLINICAL INFORMATION:
Board Certifications:
American Board of Medical Genetics: Clinical Genetics & Clinical Biochemical Genetics

Primary Focus:
Focal Dermal Hypoplasia (Goltz syndrome); Aicardi syndrome; Uniparental disomy for chromosome 14; Skeletal dysplasias; Inborn Errors of Metabolism

Professional Organizations:
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

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CONTACT INFORMATION:
V. Reid Sutton, M.D.
Department of Molecular and Human Genetics
Baylor College of Medicine
Texas Children's Hospital
Clinical Care Center
6701 Fannin, CC1560
Houston, Texas 77030, U.S.A.
Mail Stop CC1560

Telephone: 832-822-4296
Fax: 832-825-4294
E-mail: