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284259

Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients

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Last updated: 05 Jan 2025

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Abstract

MoCD is a rare autosomal recessive neuro-metabolic disorder which results from the absence of the three molybdenum requiring enzymes. It is caused by mutations in MoCS1, MoCS2, MoCS3 and GPHN genes. Therefore, there are four forms of this disorder namely type 1, 2, 3 and 4. All forms have the same clinical signs and symptoms, but differ by their genetic mutations. We present the clinical, neurological, neuro-radiological and molecular genetic analysis of two female Egyptian patients diagnosed with the rare form of MoCD type B disorder. They were subjected to detailed family history, clinical, neurological, and neuro-radiological investigations. Their diagnosis was MoCD type B with mild phenotype and confirmed by genetic mutation analysis through whole exome sequencing (WES). MoCD should be considered in all cases with neuro-developmental delay and neonatal convulsions. Therefore, MoCD analysis should be included in the neonatal screening to establish early diagnosis and potentially proper management.

DOI

10.21608/MXE.2023.283880

Keywords

GPHN, MoCS1, MoCS2, MoCS3 genes, molybdenum cofactor, neurodevelopmental delay, prenatal genetic diagnosis, whole exome sequencing

Authors

First Name

Hisham

Last Name

Megahed

MiddleName

-

Affiliation

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

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Orcid

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First Name

Engy

Last Name

Ashaat

MiddleName

A.

Affiliation

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

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City

-

Orcid

-

First Name

Samira

Last Name

Ismail

MiddleName

-

Affiliation

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

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-

Orcid

-

First Name

Neveen

Last Name

Ashaat

MiddleName

A.

Affiliation

Department of Molecular Genetics, Ain Shams University, Cairo, Egypt.

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Orcid

-

First Name

Vincent

Last Name

Cantagrel

MiddleName

-

Affiliation

Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris, France.

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City

-

Orcid

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First Name

Mona

Last Name

El Ruby

MiddleName

O.

Affiliation

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

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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

29

Page End

37

Print ISSN

2090-8571

Online ISSN

2090-763X

Article File

MXE_Volume 11_Issue 1_Pages 29-37.pdf

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Link

https://mxe.journals.ekb.eg/article_284259.html

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https://mxe.journals.ekb.eg/service?article_code=284259

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284,259

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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

Mild phenotype of Molybdenum cofactor (MoCo) deficiency Type B among Egyptian patients

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Article

Created At

29 Dec 2024