Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report-Reference-Cited by-同舟云学术

Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report

Published:2023-04 Issue:4 Volume:11 Page:
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clinical Case Reports

Author:

Amato Maria Eugenia¹,Ricart Silvia²,Vicente Maria Asunción³⁴⁵,Martorell Loreto⁶⁷,Armstrong Judith⁶⁷,Fernández Isern Guerau⁶,Mascaro José Manuel⁸,Balsells Sol⁹,Alonso Itziar¹,Serrano Mercedes¹⁷,Ortigoza‐Escobar Juan Darío⁷¹⁰¹¹^ORCID

Affiliation:

1. Pediatric Neurology Department, Institut de Recerca Hospital Sant Joan de Déu Barcelona Barcelona Spain

2. Chronic Complex and Palliative Pediatric Service Hospital Sant Joan de Déu Barcelona Barcelona Spain

3. Department of Dermatology Hospital Sant Joan de Déu Barcelona Spain

4. European Reference Network for rare skin diseases (ERN‐Skin) Barcelona Spain

5. CSUR Epidermolisis Ampollosa Hereditaria Barcelona Spain

6. Department of Genetic and Molecular Medicine‐IPER Institut de Recerca Sant Joan de Déu Barcelona Spain

7. U‐703 Centre for Biomedical Research on Rare Diseases (CIBER‐ER) Instituto de Salud Carlos III Barcelona Spain

8. Department of Dermatology Hospital Clinic Barcelona Spain

9. Department of Statistics Institut de Recerca Sant Joan de Déu Barcelona Spain

10. Movement Disorders Unit, Pediatric Neurology Department Institut de Recerca, Hospital Sant Joan de Déu Barcelona Barcelona Spain

11. European Reference Network for Rare Neurological Diseases (ERN‐RND) Barcelona Spain

Abstract

Key Clinical MessageThe presence of more than one genetic/genomic disorder is not uncommon. It is therefore essential to continuously consider new signs and symptoms over time. Administration of gene therapy could be extremely difficult in particular situations.AbstractA 9‐month‐old boy presented to our department for evaluation of developmental delay. We found that he was affected by intermediate junctional epidermolysis bullosa (COL17A1, c.3766 + 1G > A, homozygous), Angelman syndrome (5,5 Mb deletion of 15q11.2‐q13.1), and autosomal recessive deafness type 57 (PDZD7, c.883C > T, homozygous).

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.7275

Reference11 articles.

1. Clinical characteristics and epilepsy in genomic imprinting disorders: Angelman syndrome and Prader–Willi syndrome

2. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

3. Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1 ) in a patient with concomitant simplex and junctional epidermolysis bullosa

4. Epidemiology of Inherited Epidermolysis Bullosa Based on Incidence and Prevalence Estimates From the National Epidermolysis Bullosa Registry

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