c.3623G > A mutation encodes a CFTR protein with impaired channel function

Xiaoying Zhang, Jaspal S. Hothi, Yanhui Zhang, Saumini Srinivasan, Dennis C. Stokes, Weiqiang Zhang

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Background: The aims of this study were to characterize clinical features of a pediatric African-American cystic fibrosis (CF) patient heterozygous for F508del and a novel c.3623G > A mutation, and to identify the molecular defect(s) associated with c.3623G > A mutation. Methods: The medical record of this patient was analyzed retrospectively. Western blotting and iodide efflux assay were used to study mutant CFTR protein expression level, maturation status, channel function, and the effects of CFTR modulation on these characteristics. Results: The encoding protein of c.3623G > A mutation, G1208D-CFTR, has a moderate processing defect and exhibits impaired channel function, which were partially rescued by using VX-809 or exposed to low temperature (28 °C). The patient has mild CF disease manifestations. Conclusions: Our biochemical findings correlate with the clinical phenotype and suggest that c.3623G > A is a CF-causing mutation. The study helps expand our knowledge of rare CFTR mutations in a minority population and may have important clinical implications for personalized therapeutic intervention.

Original languageEnglish (US)
Article number8
JournalRespiratory research
Volume17
Issue number1
DOIs
StatePublished - Jan 22 2016

Fingerprint

Cystic Fibrosis Transmembrane Conductance Regulator
Mutation
Cystic Fibrosis
Iodides
Mutant Proteins
African Americans
Medical Records
Western Blotting
Pediatrics
Phenotype
Temperature
Population
Proteins

All Science Journal Classification (ASJC) codes

  • Pulmonary and Respiratory Medicine

Cite this

c.3623G > A mutation encodes a CFTR protein with impaired channel function. / Zhang, Xiaoying; Hothi, Jaspal S.; Zhang, Yanhui; Srinivasan, Saumini; Stokes, Dennis C.; Zhang, Weiqiang.

In: Respiratory research, Vol. 17, No. 1, 8, 22.01.2016.

Research output: Contribution to journalArticle

Zhang, Xiaoying ; Hothi, Jaspal S. ; Zhang, Yanhui ; Srinivasan, Saumini ; Stokes, Dennis C. ; Zhang, Weiqiang. / c.3623G > A mutation encodes a CFTR protein with impaired channel function. In: Respiratory research. 2016 ; Vol. 17, No. 1.
@article{c930440c4a574753b8e9cf7b27948df4,
title = "c.3623G > A mutation encodes a CFTR protein with impaired channel function",
abstract = "Background: The aims of this study were to characterize clinical features of a pediatric African-American cystic fibrosis (CF) patient heterozygous for F508del and a novel c.3623G > A mutation, and to identify the molecular defect(s) associated with c.3623G > A mutation. Methods: The medical record of this patient was analyzed retrospectively. Western blotting and iodide efflux assay were used to study mutant CFTR protein expression level, maturation status, channel function, and the effects of CFTR modulation on these characteristics. Results: The encoding protein of c.3623G > A mutation, G1208D-CFTR, has a moderate processing defect and exhibits impaired channel function, which were partially rescued by using VX-809 or exposed to low temperature (28 °C). The patient has mild CF disease manifestations. Conclusions: Our biochemical findings correlate with the clinical phenotype and suggest that c.3623G > A is a CF-causing mutation. The study helps expand our knowledge of rare CFTR mutations in a minority population and may have important clinical implications for personalized therapeutic intervention.",
author = "Xiaoying Zhang and Hothi, {Jaspal S.} and Yanhui Zhang and Saumini Srinivasan and Stokes, {Dennis C.} and Weiqiang Zhang",
year = "2016",
month = "1",
day = "22",
doi = "10.1186/s12931-016-0326-7",
language = "English (US)",
volume = "17",
journal = "Respiratory Research",
issn = "1465-9921",
publisher = "BioMed Central",
number = "1",

}

TY - JOUR

T1 - c.3623G > A mutation encodes a CFTR protein with impaired channel function

AU - Zhang, Xiaoying

AU - Hothi, Jaspal S.

AU - Zhang, Yanhui

AU - Srinivasan, Saumini

AU - Stokes, Dennis C.

AU - Zhang, Weiqiang

PY - 2016/1/22

Y1 - 2016/1/22

N2 - Background: The aims of this study were to characterize clinical features of a pediatric African-American cystic fibrosis (CF) patient heterozygous for F508del and a novel c.3623G > A mutation, and to identify the molecular defect(s) associated with c.3623G > A mutation. Methods: The medical record of this patient was analyzed retrospectively. Western blotting and iodide efflux assay were used to study mutant CFTR protein expression level, maturation status, channel function, and the effects of CFTR modulation on these characteristics. Results: The encoding protein of c.3623G > A mutation, G1208D-CFTR, has a moderate processing defect and exhibits impaired channel function, which were partially rescued by using VX-809 or exposed to low temperature (28 °C). The patient has mild CF disease manifestations. Conclusions: Our biochemical findings correlate with the clinical phenotype and suggest that c.3623G > A is a CF-causing mutation. The study helps expand our knowledge of rare CFTR mutations in a minority population and may have important clinical implications for personalized therapeutic intervention.

AB - Background: The aims of this study were to characterize clinical features of a pediatric African-American cystic fibrosis (CF) patient heterozygous for F508del and a novel c.3623G > A mutation, and to identify the molecular defect(s) associated with c.3623G > A mutation. Methods: The medical record of this patient was analyzed retrospectively. Western blotting and iodide efflux assay were used to study mutant CFTR protein expression level, maturation status, channel function, and the effects of CFTR modulation on these characteristics. Results: The encoding protein of c.3623G > A mutation, G1208D-CFTR, has a moderate processing defect and exhibits impaired channel function, which were partially rescued by using VX-809 or exposed to low temperature (28 °C). The patient has mild CF disease manifestations. Conclusions: Our biochemical findings correlate with the clinical phenotype and suggest that c.3623G > A is a CF-causing mutation. The study helps expand our knowledge of rare CFTR mutations in a minority population and may have important clinical implications for personalized therapeutic intervention.

UR - http://www.scopus.com/inward/record.url?scp=84960807817&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84960807817&partnerID=8YFLogxK

U2 - 10.1186/s12931-016-0326-7

DO - 10.1186/s12931-016-0326-7

M3 - Article

VL - 17

JO - Respiratory Research

JF - Respiratory Research

SN - 1465-9921

IS - 1

M1 - 8

ER -