Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations.
PORCN gene
bladder extrophy
focal dermal hypoplasia
skeletal malformations
skin lesions
Journal
Congenital anomalies
ISSN: 1741-4520
Titre abrégé: Congenit Anom (Kyoto)
Pays: Australia
ID NLM: 9306292
Informations de publication
Date de publication:
Mar 2022
Mar 2022
Historique:
revised:
21
11
2021
received:
18
09
2021
accepted:
06
12
2021
pubmed:
29
12
2021
medline:
8
3
2022
entrez:
28
12
2021
Statut:
ppublish
Résumé
Mutations in the PORCN gene cause an X-linked dominant condition; focal dermal hypoplasia (FDH), characterized by atrophic skin, pigmented skin lesions in addition to several ocular and skeletal malformations. FDH is rare with around 275 cases reported so far from diverse ethnic groups. Herein, we provide a report of two new patients with FDH from Egypt. In addition to the typical clinical manifestations of the disease, infrequently reported clinical findings in the form of broad metaphysis, bilateral short broad femurs, and dermal sinus over the sacrum were seen in Patient 1 and partial fusion of labia majora, ventral hernia, and bladder extrophy were present in Patient 2. Two heterozygous protein-truncating PORCN mutations were identified in our patients, a known nonsense c.370C>T p.(Arg124Ter) and a novel frameshift c.375delG p.(Ala126HisfsTer3). Segregation analyses confirmed that the two mutations were "de novo" and not inherited from any of the parents. Our study expands the clinical and mutational spectrum of focal dermal hypoplasia and emphasizes the importance of investigating the different body systems and organs for the early management of patients.
Substances chimiques
Codon, Nonsense
0
Membrane Proteins
0
Acyltransferases
EC 2.3.-
PORCN protein, human
EC 2.3.1.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
68-77Informations de copyright
© 2021 Japanese Teratology Society.
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