Positions
- Professor
-
Molecular and Human Genetics
Baylor College of Medicine
Houston, TX US
- Vice Chair for Graduate Medical Education
-
Molecular and Human Genetics
Baylor College of Medicine
- Medical Director
-
Biochemical Genetics
Baylor Genetics
- Director
-
Medical Genetics Residency & Fellowship Programs
Baylor College of Medicine
- Director
-
Inborn Errors of Metabolism Service
Texas Children's Hospital
Education
- BA from Transylvania University, Kentucky
- 01/1988 - Lexington, KY United States
- MD from University Of Kentucky College Of Medicine
- 01/1992 - Lexington, KY United States
- Residency at Washington University Affiliate Hospitals
- 01/1996 - St. Louis, MO United States
- Pediatrics
- Clinical Fellowship at Baylor College Of Medicine
- 01/1999 - Houston, TX United States
- Medical Genetics
Certifications
- Clinical Genetics
- American Board of Medical Genetics
- Clinical Biochemical Genetics
- American Board of Medical Genetics
Professional Interests
- Osteogenesis imperfecta/brittle bone disease
- Achondroplasia
- Creatine transporter deficiency
- Aicardi syndrome
- Goltz syndrome
- Inborn Errors of Metabolism
- Skeletal dysplasias
- Robinow Syndrome
- White-Sutton Syndrome
Professional Statement
I have committed myself to advancing scientific knowledge and patient care by applying my clinical skills to research questions. I have employed my knowledge and expertise in the diagnosis of genetic syndromes, dysmorphology, genetic mechanisms of disease, inborn errors of metabolism and skeletal dysplasias to answer clinical research questions. I have done this in independent studies of my own design as well as many instances of collaborative research with colleagues engaged in the laboratory investigation of Mendelian diseases.I have made contributions through gene discovery and defining the phenotypic spectrum of a number of syndromes including uniparental disomy for chromosome 14, Aicardi, Goltz, Ankyloblepharon-Ectodermal Dysplasia Clefting (AEC), Robinow and White-Sutton syndromes. I am the clinical geneticist for the Baylor Center for Genomic Research to Elucidate the Genetics of Rare Disorders (GREGoR) which is an NIH/NHGRI-funded study to discover the genetic basis of Mendelian disorders.
In my role as the Medical Director of the Biochemical Genetics Laboratory at Baylor Genetics, we have developed large-scale metabolomic profiling for the screening and diagnosis of inborn errors of metabolism and our laboratory is the first in the world to offer metabolomic profiling on a clinical basis, which has led to both advances in care and new discoveries.
I am the principal investigator for a multi-site longitudinal study of OI that is funded by the NIH (NCATS, NICHD, NIDCR, NIAMS & NIMH) as part of the Brittle Bone Disorders Consortium of the Rare Disease Clinical Research Network and am also the clinical team liaison for this project.
Websites
Selected Publications
- Liu N, Xiao J, Gijavanekar C, Pappan KL, Glinton KE, Shayota BJ, Kennedy AD, Sun Q, Sutton VR, Elsea SH "Comparison of untargeted metabolomic proflining vs traditional metabolic screening to identify inborn errors of metabolism.." JAMA Network Open. 2021;4:e2114155.
- Shayota BJ, Zhang C, Shypailo RJ, Mazzeu JF, Carvalho CMB, Sutton VR "Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture and genotype-phenotype correlations with the osteosclerotic form.." Am J Med Genet. 2020;182:2632-2640.
- Murali CN, Cuthbertson D, Slater B, Nguyen D, Turner A, (…) Sutton VR, (...) Nagamani SCS "Pediatric outcomes data collection instrument is a useful patient-reported outcome measure for physical function in children with osteogenesis imperfecta.." Genet Med.. 2020;22:581-5.
- Tosi LL, Floor MK, Dollar CM, Gillies AP; Members of the Brittle Bone Disease Consortium, Hart TS, Cuthbertson DD, Sutton VR, Krischer JP "Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study.." Orphanet J Rare Dis.. 2019;14:23.
- White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, (...), Sutton VR, Lupski JR, Carvalho CMB "WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.." Am J Hum Genet.. 2018;102:27-43.
- Eldomery MKI, Akdemir ZC, Vögtle FN, Charng WL, Mulica P, (...), Sutton VR "MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia and infantile death.." Genome Med. 2017;8:106.
- Posey JE, Harel T, Liu P, Rosenfeld JA, James RA, (...), Sutton VR, Shaw CA, Plon SE, Yang Y, Lupski JR "Resolution of disease phenotypes resulting from multilocus genomic variation.." N Engl J Med.. 2017;376:21-31.
- Bostwick B, Fang P, Patel A, Sutton VR "Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.." Am J Med Genet C Semin Med Genet.. 2016;172C:9-20.
- Romere C, Duerrschmid C, Bournat J, Constable P, Jain M, Xia F, Saha PK, Del Solar M, Zhu B, York B, Sarkar P, Rendon DA, Gaber MW, LeMaire SA, Coselli JS, Milewicz DM, Sutton VR, Butte NF, Moore DD, Chopra AR "Asprosin, a Fasting-Induced Glucogenic Protein Hormone.." Cell. 2016;165:566-79.
- White J, Beck CR, Harel T, Posey JE, Jhangiani SN, (...), Sutton VR "POGZ truncating alleles cause syndromic intellectual disability.." Genome Med. 2016;8:3.
- Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LA, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH "Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism." J Inherit Metab Dis. 2015 Apr 15;38:1029-39. Pubmed PMID: 25875217
- Chong JX, Buckingham KJ, Jhangiani SN, Boehm C, Sobreira N,..., Sutton VR, Tabor HK, Leal SM, Gunel M, Mane S, Gibbs RA, Boerwinkle E, Hamosh A, Shendure J, Lupski JR, Lifton RP, Valle D, Nickerson DA; Centers for Mendelian Genomics, Bamshad MJ "The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities." Am J Hum Genet. 2015 Aug 6;97(2):199-215. Pubmed PMID: 26166479
- White J, Mazzeu JF, Hoischen A, Jhangiani SN, ..., Muzny DM, Sutton VR, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Lupski JR, Brunner HG, van Bon BW, Carvalho CM "DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome." Am J Hum Genet. 2015 Apr 2;96:612-22. Pubmed PMID: 25817016
- Atwal PS, Donti TR, Cardon AL, Bacino CA, Sun Q, Emrick L, Reid Sutton V, Elsea SH "Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma." Mol Genet Metab. 2015 Jun;115:91-4. Pubmed PMID: 25956449
- Patel RM, Nagamani SC, Cuthbertson D, Campeau PM, Krischer JP, Shapiro JR, Steiner RD, Smith PA, Bober MB, Byers PH, Pepin M, Durigova M, Glorieux FH, Rauch F, Lee BH, Hart T, Sutton VR "A cross-sectional multicenter study of osteogenesis imperfecta in North America - results from the linked clinical research centers." Clin Genet. 2015 Feb;87:133-40. Pubmed PMID: 24754836
- Sutton VR, van Bokhoven H "TP63-Related Disorders." In: Pagon RA, Adam MP, Ardinger HH, Wallace S. 2015 Aug 6; Pubmed PMID: 20556892
- Wu N, Ming X, Xiao J, Wu Z, Chen X, Shinawi M, Shen Y,..., Sutton VR, Wang H, Ming Y, Kulkarni S, Zhong TP, Giampietro PF, Dunwoodie SL, Cheung SW, Zhang X, Jin L, Lupski JR, Qiu G, Zhang F "TBX6 null variants and a common hypomorphic allele in congenital scoliosis." N Engl J Med. 2015 Jan 22;372(4):341-50. Pubmed PMID: 25564734
- Sutton VR, Van den Veyver IB "Aicardi Syndrome." In: Pagon RA, Adam MP, Ardinger HH, Wallace S. 2014 Nov 6; Pubmed PMID: 20301555
- Miller MJ, Soler-Alfonso CR, Grund JE, Fang P, Sun Q, Elsea SH, Sutton VR "Improved standards for prenatal diagnosis of citrullinemia." Mol Genet Metab. 2014 Jul;112(3):205-9. Pubmed PMID: 24889030
- Chandler RJ, Tarasenko TN, Cusmano-Ozog K, Sun Q, Sutton VR, Venditti CP, McGuire PJ "Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1." Gene Ther. 2013 Dec;20(12):1188-91. Pubmed PMID: 24131980
- Sutton VR, Van den Veyver IB "Focal Dermal Hypoplasia." In: Pagon RA, Adam MP, Ardinger HH, Wallace S. 2013 Apr 11; Pubmed PMID: 20301712
- 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 "Guidelines for evaluating and managing children born with disorders of sexual development.." Pediatr Ann.. 2012;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 "Chronic management and health supervision of individuals with propionic acidemia.." Mol. Genet. Metab.. 2012 Jan;105(1):26-33. Pubmed PMID: 21963082
- Fernandes PH, Wen S, Sutton VR, Ward PA, Van den Veyver IB, Fang P "PORCN Mutations and Variants Identified in Patients with Focal Dermal Hypoplasia Through Diagnostic Gene Sequencing.." Genet Test Mol Biomarkers. 2010 Oct;14(5):709-13. Pubmed PMID: 20854095
- Sutton VR, Plunkett K, Dang DX, Lewis RA, Bree AF, Bacino CA "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. 2009 Sep;149(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 "Non-random X chromosome inactivation in Aicardi syndrome.." Hum. Genet.. 2009 Mar;125(2):211-6. Pubmed PMID: 19116729
- Wang X, Sutton VR, Eble TN, Lewis RA, Gunaratne P, Patel A, Van den Veyver IB "A genome-wide screen for copy number alterations in Aicardi syndrome.." Am. J. Med. Genet. A. 2009 Oct;149(10):2113-21. Pubmed PMID: 19760649
- Hopkins B, Sutton VR, Lewis RA, Van den Veyver I, Clark G "Neuroimaging aspects of Aicardi syndrome.." Am. J. Med. Genet. A. 2008 Nov 15;146(22):2871-8. Pubmed PMID: 18925666
- Glasmacher MA, Sutton VR, Hopkins B, 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.. 2007 Feb;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 "Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.." Am. J. Med. Genet. A. 2007 Aug 1;143(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 "Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.." Nat Genet.. 2007;39(7):836-8. Pubmed PMID: 17546030
Memberships
- American Society of Human Genetics
- Member
- American College of Medical Genetics
- Fellow
- International Skeletal Dysplasia Society
- Member
- Society of Inherited Metabolic Diseases
- Member
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