A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract

Ruru Guo; Dandan Huang; Jian Ji; Wei Liu

doi:10.1186/s12886-022-02386-y

A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract

Ruru Guo, Dandan Huang, Jian Ji, Wei Liu^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

7 Citations (Scopus)

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Abstract

Background: To identify the genetic mutation of a four-generation autosomal dominant congenital cataract family in China.

Methods: Targeted region sequencing containing 778 genes associated with ocular diseases was performed to screen for the potential mutation, and Sanger sequencing was used to confirm the mutation. The homology model was constructed to identify the protein structural change, several online software were used to predict the mutation impact. CLUSTALW was used to perform multiple sequence alignment from different species.

Results: A novel heterozygous mutation, GJA8 NM_005267.5: c.124G > A, p.(E42K) was found, which cosegregated with congenital cataract phenotype in this family. Bioinformatics analysis of the mutation showed that the surface potential diagram of proteins changed. Several online programs predicted the mutation was ‘Pathogenic’, ‘Damaging’, ‘Disease causing’ or ‘Deleterious’.

Conclusions: A novel mutation NM_005267.5(GJA8):c.124G > A was identified in our study. Our finding can broaden the mutation spectrum of GJA8, enrich the phenotype-genotype correlation of congenital cataract and help to better understand the genetic background of congenital cataract.

Original language	English
Article number	172
Number of pages	8
Journal	Bmc ophthalmology
Volume	22
DOIs	https://doi.org/10.1186/s12886-022-02386-y
Publication status	Published - Dec-2022

Keywords

Congenital cataract
GJA8
Hemichannel

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@article{19ba3c8c93854f20ad8be43d7fb3f611,

title = "A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract",

abstract = "Background: To identify the genetic mutation of a four-generation autosomal dominant congenital cataract family in China.Methods: Targeted region sequencing containing 778 genes associated with ocular diseases was performed to screen for the potential mutation, and Sanger sequencing was used to confirm the mutation. The homology model was constructed to identify the protein structural change, several online software were used to predict the mutation impact. CLUSTALW was used to perform multiple sequence alignment from different species.Results: A novel heterozygous mutation, GJA8 NM_005267.5: c.124G > A, p.(E42K) was found, which cosegregated with congenital cataract phenotype in this family. Bioinformatics analysis of the mutation showed that the surface potential diagram of proteins changed. Several online programs predicted the mutation was {\textquoteleft}Pathogenic{\textquoteright}, {\textquoteleft}Damaging{\textquoteright}, {\textquoteleft}Disease causing{\textquoteright} or {\textquoteleft}Deleterious{\textquoteright}.Conclusions: A novel mutation NM_005267.5(GJA8):c.124G > A was identified in our study. Our finding can broaden the mutation spectrum of GJA8, enrich the phenotype-genotype correlation of congenital cataract and help to better understand the genetic background of congenital cataract.",

keywords = "Congenital cataract, GJA8, Hemichannel",

author = "Ruru Guo and Dandan Huang and Jian Ji and Wei Liu",

note = "Funding Information: This work was supported by a grant from Open Project of Tianjin Key Laboratory of Retinal Functions and Diseases (2020tjswmq003), Youth Special Fund of Clinical Research of Tianjin Medical University Eye Hospital (2020QN02) and Tianjin Key Medical Discipline (Specialty) Construction Project. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results. Publisher Copyright: {\textcopyright} 2022, The Author(s).",

year = "2022",

month = dec,

doi = "10.1186/s12886-022-02386-y",

language = "English",

volume = "22",

journal = "Bmc ophthalmology",

issn = "1471-2415",

publisher = "BMC",

}

TY - JOUR

T1 - A novel mutation GJA8 NM_005267.5

T2 - c.124G > A, p.(E42K) causing congenital nuclear cataract

AU - Guo, Ruru

AU - Huang, Dandan

AU - Ji, Jian

AU - Liu, Wei

N1 - Funding Information: This work was supported by a grant from Open Project of Tianjin Key Laboratory of Retinal Functions and Diseases (2020tjswmq003), Youth Special Fund of Clinical Research of Tianjin Medical University Eye Hospital (2020QN02) and Tianjin Key Medical Discipline (Specialty) Construction Project. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results. Publisher Copyright: © 2022, The Author(s).

PY - 2022/12

Y1 - 2022/12

N2 - Background: To identify the genetic mutation of a four-generation autosomal dominant congenital cataract family in China.Methods: Targeted region sequencing containing 778 genes associated with ocular diseases was performed to screen for the potential mutation, and Sanger sequencing was used to confirm the mutation. The homology model was constructed to identify the protein structural change, several online software were used to predict the mutation impact. CLUSTALW was used to perform multiple sequence alignment from different species.Results: A novel heterozygous mutation, GJA8 NM_005267.5: c.124G > A, p.(E42K) was found, which cosegregated with congenital cataract phenotype in this family. Bioinformatics analysis of the mutation showed that the surface potential diagram of proteins changed. Several online programs predicted the mutation was ‘Pathogenic’, ‘Damaging’, ‘Disease causing’ or ‘Deleterious’.Conclusions: A novel mutation NM_005267.5(GJA8):c.124G > A was identified in our study. Our finding can broaden the mutation spectrum of GJA8, enrich the phenotype-genotype correlation of congenital cataract and help to better understand the genetic background of congenital cataract.

AB - Background: To identify the genetic mutation of a four-generation autosomal dominant congenital cataract family in China.Methods: Targeted region sequencing containing 778 genes associated with ocular diseases was performed to screen for the potential mutation, and Sanger sequencing was used to confirm the mutation. The homology model was constructed to identify the protein structural change, several online software were used to predict the mutation impact. CLUSTALW was used to perform multiple sequence alignment from different species.Results: A novel heterozygous mutation, GJA8 NM_005267.5: c.124G > A, p.(E42K) was found, which cosegregated with congenital cataract phenotype in this family. Bioinformatics analysis of the mutation showed that the surface potential diagram of proteins changed. Several online programs predicted the mutation was ‘Pathogenic’, ‘Damaging’, ‘Disease causing’ or ‘Deleterious’.Conclusions: A novel mutation NM_005267.5(GJA8):c.124G > A was identified in our study. Our finding can broaden the mutation spectrum of GJA8, enrich the phenotype-genotype correlation of congenital cataract and help to better understand the genetic background of congenital cataract.

KW - Congenital cataract

KW - GJA8

KW - Hemichannel

U2 - 10.1186/s12886-022-02386-y

DO - 10.1186/s12886-022-02386-y

M3 - Article

C2 - 35428228

AN - SCOPUS:85128380109

SN - 1471-2415

VL - 22

JO - Bmc ophthalmology

JF - Bmc ophthalmology

M1 - 172

ER -

A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract

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