V. Reid Sutton, MD

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 (Focal Dermal Hypoplasia), Ankyloblepharon-Ectodermal Dysplasia Clefting (AEC) and Robinow and White-Sutton syndrome. I am the clinical geneticist for the Baylor-Hopkins Center for Mendelian Genomics 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 and NIAMS) as part of the Brittle Bone Disorders Consortium of the Rare Disease Clinical Research Network and am also the administrative PI for this project.

Personal Statement

Genetics Clinics

Baylor Genetics

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Clinical Interests

Inborn errors of metabolism & Skeletal dysplasias

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* Texas Children’s Hospital physicians’ licenses and credentials are reviewed prior to practicing at any of our facilities. Sections titled From the Doctor, Professional Organizations and Publications were provided by the physician’s office and were not verified by Texas Children’s Hospital.

Research interests

Osteogenesis imperfecta, metabolomic profiling for diagnosis and management of inborn errors of metabolism, White-Sutton syndrome, Robinow syndrome, creatine transporter deficiency, gene discovery and syndrome delineation 

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 Journal of Rare Diseases 14(1):23, 2019, PMID 30696467.

Wangler MF, Hubert L, Donti TR, Ventura MJ, Miller MJ, Braverman N, Gawron K, Bose M, Moser AB, Jones RO, Rizzo WB, Sutton VR, Sun Q, Kennedy AD, Elsea SH. A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkers. Genetics in Medicine 20(10):1274-1283, 2018 PMID 29419819.

White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Raymond F, Touraine R, Thevenon J, Shinawi M, Bever E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Brunner HG, Sutton VR, Lupski JR, Carvalho CMB. WNT signaling perturbations underlie the genetic heterogeneity of Robinow syndrome. American Journal of Human Genetics 102(1):27-43, 2018 PMID 29276006.

Jiang Y, Almannai M, Sutton VR, Sun Q, Elsea SH. Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenacetylglutamine ratio with plasma glutamine levels. Molecular Genetics & Metabolism 122(3):38-45, 2017.

Duerrschmid C, He Y, Wang C, Li C, Bournat JC, Romere C, Saha PK, Lee ME, Phillips KJ, Jain M, Jia P, Zhao Z, Farias M, Wu Q, Milewicz DM, Sutton VR, Moore DD, Butte NF, Krashes MJ, Xu Y, Chopra AR. Asprosin is a centrally acting orexigenic hormone. Nature Medicine 23(12):1444-1453, 2017 PMID 29106398.

Eldomery MKI, Akdemir ZC, Vögtle FN, Charng WL, Mulica P, Rosenfeld JA, Gambin T, Gu S, Burrage LC, Al Shamsi A, Penney S, Jhangiani SN, Zimmerman HH, Muzny DM, Wang X, Tang J, Medikonda R, Ramachandran PV, Wong LJ, Boerwinkle E, Gibbs RA, Eng CM, Lalani SR, Hertecant J, Rodenburg RJ, Abdul-Rahman OA, Yang Y, Xia F, Wang MC, Lupski JR, Meisinger C, Sutton VR. MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia and infantile death. Genome Medicine 8(1):106, 2016.

White J, Beck CR, Harel T, Posey JE, Jhangiani SN, Tang S, Farwell KD, Powis Z, Mendelsohn NJ, Baker JA, Pollack L, Mason KJ, Wierenga KJ, Arrington DK, Hall M, Psychogios A, Fairbrother L, Walkiewicz M, Person RE, Niu Z, Zhang J, Rosenfeld JA, Muzny DM, Eng C, Beaudet AL, Lupski JR, Boerwinkle E, Gibbs RA, Yang Y, Xia F, Sutton VR. POGZ truncating alleles cause syndromic intellectual disability. Genome Medicine 8(1):3, 2016.

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