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331297

Mutational Screening of (CLN6), (CLN7) and (CLN14) Genes in Egyptian Patients with Neuronal Ceroid Lipofuscinosis.

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Last updated: 27 Dec 2024

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Abstract

Neuronal ceroid lipofuscinoses (NCL), the commonest autosomal recessive neurodegenerative disorder, is marked by an accumulation of auto-fluorescent storage material, primarily in neurons. NCL affects the neurons and causes damage due to accumulation of auto-fluorescent lysosomal storage material inside the neuronal cytoplasm. Although it is a rare fatal childhood disorder, childhood, patients born with it suffer life threatening complications and disabilities that deteriorates their quality of life. The current study aims to screen for mutations in CLN 6,7, and 14 genes in twenty Egyptian patients clinically diagnosed with seizures, Retinal degeneration, progressive mental deterioration and ataxia, using direct Sanger sequencing. Two reported mutations have been detected in CLN6 gene, homozygous missense (c.299T>G) and 3-bp deletion (c.711_713delCTT) in two different cases who are not siblings, and the other eighteen patients had no genetic defects in the enrolled genes. Further studies on larger number of participants are required in order to further clarify the causative CLN genes, particularlyCLN6, CLN7 and CLN14 among Egyptian patients.

DOI

10.21608/aijpms.2023.163148.1169

Keywords

Mutation, Neuronal ceroid lipofuscinoses (NCL), autosomal recessive, Neurodegenerative, Disorders, Sanger sequencing

Authors

First Name

Mona

Last Name

Srour

MiddleName

A

Affiliation

Department of Biochemistry and Molecular Biology, Faculty of Pharmacy (Girls), Al-Azhar University, Cairo, Egypt

Email

drmonasrour@yahoo.com

City

cairo

Orcid

-

First Name

Maha

Last Name

Zaki

MiddleName

S

Affiliation

Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.

Email

dr_mahazaki@yahoo.com

City

Cairo

Orcid

-

First Name

Abeer

Last Name

Abd El-Fattah

MiddleName

I

Affiliation

Department of Biochemistry and Molecular Biology, Faculty of Pharmacy (Girls), Al-Azhar University, Cairo, Egypt

Email

abeeribrahim.pharmg@azhar.edu.eg

City

Cairo

Orcid

-

First Name

Asmaa

Last Name

Ali

MiddleName

S

Affiliation

Department of Biochemistry and Molecular Biology, Faculty of Pharmacy (Girls), Al-Azhar University, Cairo, Egypt

Email

asmaakhalafalla883.el@azhar.edu.eg

City

-

Orcid

-

First Name

Mahmoud

Last Name

Isaa

MiddleName

Y

Affiliation

Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Egypt

Email

myisaa2002@hotmail.com

City

Cairo

Orcid

-

First Name

Miral

Last Name

Refeat

MiddleName

-

Affiliation

Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, National Research Centre, Egypt

Email

mira_refeat@yahoo.com

City

Cairo

Orcid

-

Volume

4

Article Issue

1

Related Issue

44808

Issue Date

2024-01-01

Receive Date

2022-09-15

Publish Date

2024-01-01

Page Start

91

Page End

97

Print ISSN

2735-4598

Online ISSN

2735-4601

Article File

AIJPMS_Volume 4_Issue 1_Pages 91-97.pdf

PDF . 597.6kB

Link

https://aijpms.journals.ekb.eg/article_331297.html

Detail API

https://aijpms.journals.ekb.eg/service?article_code=331297

Order

8

Type

Original research articles

Type Code

1,562

Publication Type

Journal

Publication Title

Azhar International Journal of Pharmaceutical and Medical Sciences

Publication Link

https://aijpms.journals.ekb.eg/

MainTitle

Mutational Screening of (CLN6), (CLN7) and (CLN14) Genes in Egyptian Patients with Neuronal Ceroid Lipofuscinosis.

Details

Type

Article

Created At

27 Dec 2024