Personalized genomic medicine

Lessons from the exome

Benjamin D. Solomon, Daniel E. Pineda-Alvarez, Donald W. Hadley, Jamie K. Teer, Praveen F. Cherukuri, Nancy F. Hansen, Pedro Cruz, Alice C. Young, Robert W. Blakesley, Brendan Lanpher, Stephanie Mayfield Gibson, Murat Sincan, Settara C. Chandrasekharappa, James C. Mullikin

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

While genomic sequencing methods are powerful tools in the discovery of the genetic underpinnings of human disease, incidentally-revealed novel genomic risk factors may be equally important, both scientifically, and as relates to direct patient care. We performed whole-exome sequencing on a child with VACTERL association who suffered severe post-surgical neonatal pulmonary hypertension, and identified a potential novel genetic risk factor for this complication: a heterozygous mutation in CPSI. Newborn screening results from this patient's monozygotic twin provided evidence that this mutation, in combination with an environmental trigger (in this case, surgery), may have resulted in pulmonary artery hypertension due to inadequate nitric oxide production. Identification of this genetic risk factor allows for targeted medical preventative measures in this patient as well as relatives with the same mutation, and illustrates the power of incidental medical information unearthed by whole-exome sequencing.

Original languageEnglish (US)
Pages (from-to)189-191
Number of pages3
JournalMolecular Genetics and Metabolism
Volume104
Issue number1-2
DOIs
StatePublished - Sep 1 2011

Fingerprint

Exome
Precision Medicine
Medicine
Pulmonary Hypertension
Mutation
Monozygotic Twins
Medical Genetics
Surgery
Pulmonary Artery
Patient Care
Screening
Nitric Oxide
Newborn Infant

Keywords

  • CPSI
  • Pulmonary artery hypertension
  • VACTERL
  • Whole-exome sequencing

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

Cite this

Solomon, B. D., Pineda-Alvarez, D. E., Hadley, D. W., Teer, J. K., Cherukuri, P. F., Hansen, N. F., ... Mullikin, J. C. (2011). Personalized genomic medicine: Lessons from the exome. Molecular Genetics and Metabolism, 104(1-2), 189-191. https://doi.org/10.1016/j.ymgme.2011.06.022

Personalized genomic medicine : Lessons from the exome. / Solomon, Benjamin D.; Pineda-Alvarez, Daniel E.; Hadley, Donald W.; Teer, Jamie K.; Cherukuri, Praveen F.; Hansen, Nancy F.; Cruz, Pedro; Young, Alice C.; Blakesley, Robert W.; Lanpher, Brendan; Mayfield Gibson, Stephanie; Sincan, Murat; Chandrasekharappa, Settara C.; Mullikin, James C.

In: Molecular Genetics and Metabolism, Vol. 104, No. 1-2, 01.09.2011, p. 189-191.

Research output: Contribution to journalArticle

Solomon, BD, Pineda-Alvarez, DE, Hadley, DW, Teer, JK, Cherukuri, PF, Hansen, NF, Cruz, P, Young, AC, Blakesley, RW, Lanpher, B, Mayfield Gibson, S, Sincan, M, Chandrasekharappa, SC & Mullikin, JC 2011, 'Personalized genomic medicine: Lessons from the exome', Molecular Genetics and Metabolism, vol. 104, no. 1-2, pp. 189-191. https://doi.org/10.1016/j.ymgme.2011.06.022
Solomon BD, Pineda-Alvarez DE, Hadley DW, Teer JK, Cherukuri PF, Hansen NF et al. Personalized genomic medicine: Lessons from the exome. Molecular Genetics and Metabolism. 2011 Sep 1;104(1-2):189-191. https://doi.org/10.1016/j.ymgme.2011.06.022
Solomon, Benjamin D. ; Pineda-Alvarez, Daniel E. ; Hadley, Donald W. ; Teer, Jamie K. ; Cherukuri, Praveen F. ; Hansen, Nancy F. ; Cruz, Pedro ; Young, Alice C. ; Blakesley, Robert W. ; Lanpher, Brendan ; Mayfield Gibson, Stephanie ; Sincan, Murat ; Chandrasekharappa, Settara C. ; Mullikin, James C. / Personalized genomic medicine : Lessons from the exome. In: Molecular Genetics and Metabolism. 2011 ; Vol. 104, No. 1-2. pp. 189-191.
@article{471a18a1c1e44a51b49c9b71e9bc92ad,
title = "Personalized genomic medicine: Lessons from the exome",
abstract = "While genomic sequencing methods are powerful tools in the discovery of the genetic underpinnings of human disease, incidentally-revealed novel genomic risk factors may be equally important, both scientifically, and as relates to direct patient care. We performed whole-exome sequencing on a child with VACTERL association who suffered severe post-surgical neonatal pulmonary hypertension, and identified a potential novel genetic risk factor for this complication: a heterozygous mutation in CPSI. Newborn screening results from this patient's monozygotic twin provided evidence that this mutation, in combination with an environmental trigger (in this case, surgery), may have resulted in pulmonary artery hypertension due to inadequate nitric oxide production. Identification of this genetic risk factor allows for targeted medical preventative measures in this patient as well as relatives with the same mutation, and illustrates the power of incidental medical information unearthed by whole-exome sequencing.",
keywords = "CPSI, Pulmonary artery hypertension, VACTERL, Whole-exome sequencing",
author = "Solomon, {Benjamin D.} and Pineda-Alvarez, {Daniel E.} and Hadley, {Donald W.} and Teer, {Jamie K.} and Cherukuri, {Praveen F.} and Hansen, {Nancy F.} and Pedro Cruz and Young, {Alice C.} and Blakesley, {Robert W.} and Brendan Lanpher and {Mayfield Gibson}, Stephanie and Murat Sincan and Chandrasekharappa, {Settara C.} and Mullikin, {James C.}",
year = "2011",
month = "9",
day = "1",
doi = "10.1016/j.ymgme.2011.06.022",
language = "English (US)",
volume = "104",
pages = "189--191",
journal = "Molecular Genetics and Metabolism",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "1-2",

}

TY - JOUR

T1 - Personalized genomic medicine

T2 - Lessons from the exome

AU - Solomon, Benjamin D.

AU - Pineda-Alvarez, Daniel E.

AU - Hadley, Donald W.

AU - Teer, Jamie K.

AU - Cherukuri, Praveen F.

AU - Hansen, Nancy F.

AU - Cruz, Pedro

AU - Young, Alice C.

AU - Blakesley, Robert W.

AU - Lanpher, Brendan

AU - Mayfield Gibson, Stephanie

AU - Sincan, Murat

AU - Chandrasekharappa, Settara C.

AU - Mullikin, James C.

PY - 2011/9/1

Y1 - 2011/9/1

N2 - While genomic sequencing methods are powerful tools in the discovery of the genetic underpinnings of human disease, incidentally-revealed novel genomic risk factors may be equally important, both scientifically, and as relates to direct patient care. We performed whole-exome sequencing on a child with VACTERL association who suffered severe post-surgical neonatal pulmonary hypertension, and identified a potential novel genetic risk factor for this complication: a heterozygous mutation in CPSI. Newborn screening results from this patient's monozygotic twin provided evidence that this mutation, in combination with an environmental trigger (in this case, surgery), may have resulted in pulmonary artery hypertension due to inadequate nitric oxide production. Identification of this genetic risk factor allows for targeted medical preventative measures in this patient as well as relatives with the same mutation, and illustrates the power of incidental medical information unearthed by whole-exome sequencing.

AB - While genomic sequencing methods are powerful tools in the discovery of the genetic underpinnings of human disease, incidentally-revealed novel genomic risk factors may be equally important, both scientifically, and as relates to direct patient care. We performed whole-exome sequencing on a child with VACTERL association who suffered severe post-surgical neonatal pulmonary hypertension, and identified a potential novel genetic risk factor for this complication: a heterozygous mutation in CPSI. Newborn screening results from this patient's monozygotic twin provided evidence that this mutation, in combination with an environmental trigger (in this case, surgery), may have resulted in pulmonary artery hypertension due to inadequate nitric oxide production. Identification of this genetic risk factor allows for targeted medical preventative measures in this patient as well as relatives with the same mutation, and illustrates the power of incidental medical information unearthed by whole-exome sequencing.

KW - CPSI

KW - Pulmonary artery hypertension

KW - VACTERL

KW - Whole-exome sequencing

UR - http://www.scopus.com/inward/record.url?scp=80052521660&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=80052521660&partnerID=8YFLogxK

U2 - 10.1016/j.ymgme.2011.06.022

DO - 10.1016/j.ymgme.2011.06.022

M3 - Article

VL - 104

SP - 189

EP - 191

JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

SN - 1096-7192

IS - 1-2

ER -