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287629

Phelan–McDermid Syndrome: Expanding the Phenotype

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Last updated: 05 Jan 2025

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Abstract

Background: Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder recognized by developmental delay, mild dysmorphisms, autism spectrum disorder (ASD), and intellectual disability (ID). Objectives: The aim of this work was to describe an Egyptian cohort of PMS patients and investigate the phenotype-genotype correlation. Patients and Methods: Four patients with dysmorphic features, delayed milestones and autistic behavior were subjected to clinical examination, karyotyping, Fluorescence In Situ Hybridization (FISH), Multiplex ligation dependent probe amplification (MLPA) Chromosomal microarray (CMA) analysis. Results: One patient presented with microcephaly. Echocardiography showed patent foramen ovale (PFO) and bilateral abnormal superior vena cava (SVC) in one patient. MRI revealed vermal hypoplasia and kinked corpus callosum in one patient and cerebral atrophy in another patient. All patients disclosed ID, while autistic behavior was noted in 3 patients. Karyotype detected no abnormality in 3 patients, while the fourth revealed ring chromosome 22. MLPA identified heterozygous deletion at 22q13 in 2 patients. FISH and CMA detected heterozygous deletion at 22q13 in one patient. Relation between patient's results and types of graft used showed no statistically significant differences between them. Conclusion: Our study highlighted the occurrence of ASD in individuals with PMS due to SHANK3 deletion, though, some individuals could compensate for such deletions. This report expanded the PMS phenotype and described some anomalies that to the best of our knowledge have not been previously described.

DOI

10.21608/MXE.2023.287525

Keywords

CMA, 22q13 Deletion, fish, MLPA, Phelan-McDermid syndrome, SHANK3 gene

Authors

First Name

Hala

Last Name

El-Bassyouni

MiddleName

T.

Affiliation

Department of Clinical Genetics, National Research Centre, Egypt.

Email

halabassyouni@yahoo.com

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-

Orcid

0000-0001-9825-1219

First Name

Ola

Last Name

Eid

MiddleName

M.

Affiliation

Department of Human Cytogenetics, National Research Centre, Egypt.

Email

-

City

-

Orcid

-

First Name

Samira

Last Name

Ismail

MiddleName

-

Affiliation

Department of Clinical Genetics, National Research Centre, Egypt.

Email

-

City

-

Orcid

-

First Name

Mona

Last Name

El-Ruby

MiddleName

O.

Affiliation

Department of Clinical Genetics, National Research Centre, Egypt.

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-

City

-

Orcid

-

First Name

Engy

Last Name

Ashaat

MiddleName

A.

Affiliation

Department of Clinical Genetics, National Research Centre, Egypt.

Email

-

City

-

Orcid

-

First Name

Rana

Last Name

Mahrous

MiddleName

-

Affiliation

Department of Human Cytogenetics, National Research Centre, Egypt.

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-

City

-

Orcid

-

First Name

Shymaa

Last Name

Hussein

MiddleName

H.

Affiliation

Department of Human Cytogenetics, National Research Centre, Egypt.

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City

-

Orcid

-

First Name

Alaa

Last Name

Kamel

MiddleName

K.

Affiliation

Department of Human Cytogenetics, National Research Centre, Egypt.

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-

City

-

Orcid

-

First Name

Maha

Last Name

Zaki

MiddleName

S.

Affiliation

Department of Clinical Genetics, National Research Centre, Egypt.

Email

-

City

-

Orcid

-

First Name

Khaled

Last Name

Hamed

MiddleName

-

Affiliation

Department of Clinical Genetics, National Research Centre, Egypt.

Email

-

City

-

Orcid

-

First Name

Doaa

Last Name

Soliman

MiddleName

R.

Affiliation

Department of Pediatrics, Faculty of Medicine, Benha University, Benha, Egypt.

Email

-

City

-

Orcid

-

First Name

Ramy

Last Name

Mohamed

MiddleName

-

Affiliation

Department of Biological Anthropology, National Research Centre, Egypt.

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-

City

-

Orcid

-

First Name

Amal

Last Name

Mohamed

MiddleName

M.

Affiliation

Department of Human Cytogenetics, National Research Centre, Egypt.

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-

City

-

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-

Volume

11

Article Issue

2

Related Issue

39885

Issue Date

2022-07-01

Receive Date

2023-02-27

Publish Date

2022-07-01

Page Start

46

Page End

53

Print ISSN

2090-8571

Online ISSN

2090-763X

Article File

MXE_Volume 11_Issue 2_Pages 46-53.pdf

PDF . 551.3kB

Link

https://mxe.journals.ekb.eg/article_287629.html

Detail API

https://mxe.journals.ekb.eg/service?article_code=287629

Order

287,629

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

Phelan–McDermid Syndrome: Expanding the Phenotype

Details

Type

Article

Created At

29 Dec 2024