---
_id: '2313'
abstract:
- lang: eng
text: The translation of "next-generation" sequencing directly to the
clinic is still being assessed but has the potential for genetic diseases to reduce
costs, advance accuracy, and point to unsuspected yet treatable conditions. To
study its capability in the clinic, we performed whole-exome sequencing in 118
probands with a diagnosis of a pediatric-onset neurodevelopmental disease in which
most known causes had been excluded. Twenty-two genes not previously identified
as disease-causing were identified in this study (19% of cohort), further establishing
exome sequencing as a useful tool for gene discovery. New genes identified included
EXOC8 in Joubert syndrome and GFM2 in a patient with microcephaly, simplified
gyral pattern, and insulin-dependent diabetes. Exome sequencing uncovered 10 probands
(8% of cohort) with mutations in genes known to cause a disease different from
the initial diagnosis. Upon further medical evaluation, these mutations were found
to account for each proband's disease, leading to a change in diagnosis, some
of which led to changes in patient management. Our data provide proof of principle
that genomic strategies are useful in clarifying diagnosis in a proportion of
patients with neurodevelopmental disorders.
author:
- first_name: Tracy
full_name: Dixon-Salazar, Tracy J
last_name: Dixon Salazar
- first_name: Jennifer
full_name: Silhavy, Jennifer L
last_name: Silhavy
- first_name: Nitin
full_name: Udpa, Nitin
last_name: Udpa
- first_name: Jana
full_name: Schroth, Jana
last_name: Schroth
- first_name: Stephanie
full_name: Bielas, Stephanie L
last_name: Bielas
- first_name: Ashleigh
full_name: Schaffer, Ashleigh E
last_name: Schaffer
- first_name: Jesus
full_name: Olvera, Jesus
last_name: Olvera
- first_name: Vineet
full_name: Bafna, Vineet K
last_name: Bafna
- first_name: Maha
full_name: Zaki, Maha S
last_name: Zaki
- first_name: Ghada
full_name: Abdel-Salam, Ghada M
last_name: Abdel Salam
- first_name: Lobna
full_name: Mansour, Lobna A
last_name: Mansour
- first_name: Laila
full_name: Selim, Laila A
last_name: Selim
- first_name: Sawsan
full_name: Abdel-Hadi, Sawsan S
last_name: Abdel Hadi
- first_name: Naima
full_name: Marzouki, Naima
last_name: Marzouki
- first_name: Tawfeg
full_name: Ben-Omran, Tawfeg I
last_name: Ben Omran
- first_name: Nouriya
full_name: Al-Saana, Nouriya A
last_name: Al Saana
- first_name: Fatma
full_name: Sönmez, Fatma M
last_name: Sönmez
- first_name: Figen
full_name: Celep, Figen
last_name: Celep
- first_name: Matloob
full_name: Azam, Matloob
last_name: Azam
- first_name: Kiley
full_name: Hill, Kiley J
last_name: Hill
- first_name: Adrienne
full_name: Collazo, Adrienne
last_name: Collazo
- first_name: Ali
full_name: Fenstermaker, Ali G
last_name: Fenstermaker
- first_name: Gaia
full_name: Gaia Novarino
id: 3E57A680-F248-11E8-B48F-1D18A9856A87
last_name: Novarino
orcid: 0000-0002-7673-7178
- first_name: Naiara
full_name: Akizu, Naiara
last_name: Akizu
- first_name: Kiran
full_name: Garimella, Kiran V
last_name: Garimella
- first_name: Carrie
full_name: Sougnez, Carrie L
last_name: Sougnez
- first_name: Carsten
full_name: Russ, Carsten
last_name: Russ
- first_name: Stacey
full_name: Gabriel, Stacey B
last_name: Gabriel
- first_name: Joseph
full_name: Gleeson, Joseph G
last_name: Gleeson
citation:
ama: Dixon Salazar T, Silhavy J, Udpa N, et al. Exome sequencing can improve diagnosis
and alter patient management. Science Translational Medicine. 2012;4(138).
doi:10.1126/scitranslmed.3003544
apa: Dixon Salazar, T., Silhavy, J., Udpa, N., Schroth, J., Bielas, S., Schaffer,
A., … Gleeson, J. (2012). Exome sequencing can improve diagnosis and alter patient
management. Science Translational Medicine. American Association for the
Advancement of Science. https://doi.org/10.1126/scitranslmed.3003544
chicago: Dixon Salazar, Tracy, Jennifer Silhavy, Nitin Udpa, Jana Schroth, Stephanie
Bielas, Ashleigh Schaffer, Jesus Olvera, et al. “Exome Sequencing Can Improve
Diagnosis and Alter Patient Management.” Science Translational Medicine.
American Association for the Advancement of Science, 2012. https://doi.org/10.1126/scitranslmed.3003544.
ieee: T. Dixon Salazar et al., “Exome sequencing can improve diagnosis and
alter patient management,” Science Translational Medicine, vol. 4, no.
138. American Association for the Advancement of Science, 2012.
ista: Dixon Salazar T, Silhavy J, Udpa N, Schroth J, Bielas S, Schaffer A, Olvera
J, Bafna V, Zaki M, Abdel Salam G, Mansour L, Selim L, Abdel Hadi S, Marzouki
N, Ben Omran T, Al Saana N, Sönmez F, Celep F, Azam M, Hill K, Collazo A, Fenstermaker
A, Novarino G, Akizu N, Garimella K, Sougnez C, Russ C, Gabriel S, Gleeson J.
2012. Exome sequencing can improve diagnosis and alter patient management. Science
Translational Medicine. 4(138).
mla: Dixon Salazar, Tracy, et al. “Exome Sequencing Can Improve Diagnosis and Alter
Patient Management.” Science Translational Medicine, vol. 4, no. 138, American
Association for the Advancement of Science, 2012, doi:10.1126/scitranslmed.3003544.
short: T. Dixon Salazar, J. Silhavy, N. Udpa, J. Schroth, S. Bielas, A. Schaffer,
J. Olvera, V. Bafna, M. Zaki, G. Abdel Salam, L. Mansour, L. Selim, S. Abdel Hadi,
N. Marzouki, T. Ben Omran, N. Al Saana, F. Sönmez, F. Celep, M. Azam, K. Hill,
A. Collazo, A. Fenstermaker, G. Novarino, N. Akizu, K. Garimella, C. Sougnez,
C. Russ, S. Gabriel, J. Gleeson, Science Translational Medicine 4 (2012).
date_created: 2018-12-11T11:56:56Z
date_published: 2012-06-13T00:00:00Z
date_updated: 2021-01-12T06:56:43Z
day: '13'
doi: 10.1126/scitranslmed.3003544
extern: 1
intvolume: ' 4'
issue: '138'
month: '06'
publication: Science Translational Medicine
publication_status: published
publisher: American Association for the Advancement of Science
publist_id: '4614'
quality_controlled: 0
status: public
title: Exome sequencing can improve diagnosis and alter patient management
type: journal_article
volume: 4
year: '2012'
...