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284251

Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants

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Last updated: 29 Dec 2024

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Abstract

Mucolipidosis term describes several clinical conditions that combine features of both mucopolysaccharidoses and sphingolipidoses. Mucolipidosis typeII (MLII) and MLIII are two forms of a rare autosomal recessive lysosomal storage disorder. Both result from deficiency of the N- acetylglucosamine (GlcNAc)-1-phospho- transferase enzyme. This enzyme is a hexameric complex; 2α, 2β and 2γ encoded by two genes; GNPTAB & GNPTG gene. In this study, we report the underlying genetics of 4 different ML Egyptian patients who were recruited according to their clinical presentations, and β-Hexosaminindase -A enzyme activity assay. Whole exome sequencing for the four patients was carried out revealing 4 different mutations with all patients homozygous for their corresponding mutations. Two frameshift mutations were found in GNPTAB gene; c.2693dupA in exons 13 & c.3503_3504delTC in exon 19. The other two mutations were mapped to the GNPTG gene; a novel nonsense mutation c.658A>T in exon 4, and the splice site mutation c.233+1G>A. both mutations were associated with mild phenotype.

DOI

10.21608/MXE.2023.283877

Keywords

Genetics, GNPTAB gene, GNPTG gene, Molecular, Mucolipidosis

Authors

First Name

Noura

Last Name

Eissa

MiddleName

R.

Affiliation

Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, Dokki, Egypt.

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City

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Orcid

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First Name

Mona

Last Name

Essawi

MiddleName

L.

Affiliation

Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, Dokki, Egypt.

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-

City

-

Orcid

-

First Name

Ghada

Last Name

Abdel-Salam

MiddleName

M.H.

Affiliation

Department of Clinical Genetics, Human Genetics and Genome Research Institute, Dokki, Egypt.

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-

City

-

Orcid

-

First Name

Heba

Last Name

Hassan

MiddleName

A.

Affiliation

Department of Medical Molecular Genetics, Human Genetics and Genome Research Institute, Dokki, Egypt.

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-

City

-

Orcid

-

First Name

Ekram

Last Name

Fateen

MiddleName

M.

Affiliation

Department of Biochemical Genetics, Human Genetics and Genome Research Institute, Dokki, Egypt.

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-

City

-

Orcid

-

First Name

Samia

Last Name

Temtamy

MiddleName

A.

Affiliation

Department of Clinical Genetics, Human Genetics and Genome Research Institute, Dokki, Egypt.

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-

City

-

Orcid

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Volume

11

Article Issue

1

Related Issue

39416

Issue Date

2022-01-01

Receive Date

2023-02-06

Publish Date

2022-01-01

Page Start

1

Page End

11

Print ISSN

2090-8571

Online ISSN

2090-763X

Article File

MXE_Volume 11_Issue 1_Pages 1-11.pdf

PDF . 1.4MB

Link

https://mxe.journals.ekb.eg/article_284251.html

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https://mxe.journals.ekb.eg/service?article_code=284251

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284,251

Type

Original Article

Type Code

2,549

Publication Type

Journal

Publication Title

Middle East Journal of Medical Genetics

Publication Link

https://mxe.journals.ekb.eg/

MainTitle

Expanding the genetic spectrum of Mucolipidosis in Egyptian patients: Recurrent and novel GNPTAB and GNPTG genes variants

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Type

Article

Created At

29 Dec 2024