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394694

Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome (EEC) in Patients with TP63 Variants

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Last updated: 29 Dec 2024

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Abstract

Background: Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome (EEC) is a limb malformation in the form of Split hand/split foot malformations (SHFM). Tumor Protein P63 (TP63) is an important gene that has a role in tissue development and apoptosis. Different mutations in the TP63 gene can cause variable clinical disorders, such as EEC3 syndrome and SHFM4. Objective: We report two Egyptian families with SHFM that are consistent with EEC syndrome. The molecular investigation was performed in the proband of each family using Next Generation Sequencing.
Results: Two variants were detected in exons 5 and 7 of TP63 gene. Family segregation of the identified variants has been confirmed by Sanger sequencing. The two affected patients have different variants in two different exons that lead to clinical variability. Conclusion: This study is the first to identify the genetic variants involved in the EEC syndrome. Gene variants may lead to phenotypic variability among differently affected patients with similar TP63 gene variants..

DOI

10.21608/mxe.2024.394587

Keywords

EEC syndrome, limb malformations, SHSF, TP63 gene

Authors

First Name

Heba

Last Name

Hassan

MiddleName

Amin

Affiliation

Department of Medical Molecular Genetics, National Research Centre., Center of Excellence of Human Genetics (CEHG), Human Genetics and Genome Research Institute, Cairo, Egypt.

Email

heba.amin@yahoo.com

City

-

Orcid

-

First Name

Mona

Last Name

Essawi

MiddleName

L.

Affiliation

Department of Medical Molecular Genetics, National Research Centre., Center of Excellence of Human Genetics (CEHG), Human Genetics and Genome Research Institute, Cairo, Egypt.

Email

-

City

-

Orcid

-

First Name

Asmaa

Last Name

Esmail

MiddleName

M.

Affiliation

Department of Clinical Genetics., Center of Excellence of Human Genetics (CEHG), Human Genetics and Genome Research Institute, Cairo, Egypt.

Email

-

City

-

Orcid

-

First Name

Noura

Last Name

Eissa

MiddleName

R.

Affiliation

Department of Medical Molecular Genetics, National Research Centre., Center of Excellence of Human Genetics (CEHG), Human Genetics and Genome Research Institute, Cairo, Egypt.

Email

-

City

-

Orcid

-

First Name

Mona

Last Name

Aglan

MiddleName

S.

Affiliation

Department of Clinical Genetics., Center of Excellence of Human Genetics (CEHG), Human Genetics and Genome Research Institute, Cairo, Egypt.

Email

drmona_aglan@yahoo.com

City

-

Orcid

-

First Name

Samia

Last Name

Temtamy

MiddleName

A.

Affiliation

Department of Clinical Genetics., Center of Excellence of Human Genetics (CEHG), Human Genetics and Genome Research Institute, Cairo, Egypt.

Email

-

City

-

Orcid

-

Volume

13

Article Issue

1

Related Issue

51832

Issue Date

2024-01-01

Receive Date

2024-07-09

Publish Date

2024-01-01

Page Start

9

Page End

15

Print ISSN

2090-8571

Online ISSN

2090-763X

Article File

MXE_Volume 13_Issue 1_Pages 9-15.pdf

PDF . 552.5kB

Link

https://mxe.journals.ekb.eg/article_394694.html

Detail API

https://mxe.journals.ekb.eg/service?article_code=394694

Order

2

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

Ectrodactyly, Ectodermal Dysplasia and Cleft Lip/Palate Syndrome (EEC) in Patients with TP63 Variants

Details

Type

Article

Created At

29 Dec 2024