Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report.
Angelman syndrome
COL17A1
PDZD7
UBE3A
autosomal recessive deafness type 57
case report
epidermolysis bullosa
Journal
Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385
Informations de publication
Date de publication:
Apr 2023
Apr 2023
Historique:
received:
14
09
2022
revised:
18
03
2023
accepted:
12
04
2023
medline:
28
4
2023
pubmed:
28
4
2023
entrez:
28
4
2023
Statut:
epublish
Résumé
The 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. A 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). This case report highlights the value of reanalyzing genetic data in patients with rare diseases and developmental delay. It also emphasizes the importance of considering potential superimposed diagnoses in individuals with multiple genetic variants. Early diagnosis and intervention can improve outcomes and prevent further complications in affected patients.
Autres résumés
Type: Publisher
(rus)
This case report highlights the value of reanalyzing genetic data in patients with rare diseases and developmental delay. It also emphasizes the importance of considering potential superimposed diagnoses in individuals with multiple genetic variants. Early diagnosis and intervention can improve outcomes and prevent further complications in affected patients.
Identifiants
pubmed: 37113642
doi: 10.1002/ccr3.7275
pii: CCR37275
pmc: PMC10126752
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e7275Informations de copyright
© 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Déclaration de conflit d'intérêts
The authors have no conflict of interest to declare.
Références
Expert Opin Investig Drugs. 2021 Jul;30(7):709-720
pubmed: 34112038
Brain Dev. 2005 Mar;27(2):80-7
pubmed: 15668045
Am J Med Genet A. 2015 Dec;167A(12):2957-65
pubmed: 26416264
JAMA Dermatol. 2016 Nov 1;152(11):1231-1238
pubmed: 27463098
Epilepsia. 2009 Nov;50(11):2369-76
pubmed: 19453717
Ci Ji Yi Xue Za Zhi. 2019 Oct 31;32(2):137-144
pubmed: 32269945
Brain Dev. 2021 Jan;43(1):32-44
pubmed: 32893075
Br J Dermatol. 2020 Oct;183(4):614-627
pubmed: 32017015
Hum Mutat. 2018 Oct;39(10):1349-1354
pubmed: 30016581
BMC Med Genomics. 2021 Feb 2;14(1):37
pubmed: 33530996