Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
Agenesis of Corpus Callosum
Cleft Lip
Coloboma
Craniofacial Abnormalities
Diagnosis, Differential
Ear, External
/ abnormalities
Eye Abnormalities
/ genetics
Eye Diseases
Face
/ abnormalities
Humans
Lipoma
Lipomatosis
/ genetics
Nasal Polyps
Neurocutaneous Syndromes
/ genetics
Respiratory System Abnormalities
Skin Diseases
Spine
/ abnormalities
Pai syndrome
exome/genome sequencing
frontonasal dysplasia
oculoauriculofrontonasal syndrome
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
07 2022
07 2022
Historique:
revised:
20
10
2021
received:
30
04
2021
accepted:
02
11
2021
pubmed:
22
4
2022
medline:
15
6
2022
entrez:
21
4
2022
Statut:
ppublish
Résumé
Unique or multiple congenital facial skin polyps are features of several rare syndromes, from the most well-known Pai syndrome (PS), to the less recognized oculoauriculofrontonasal syndrome (OAFNS), encephalocraniocutaneous lipomatosis (ECCL), or Sakoda complex (SC). We set up a research project aiming to identify the molecular bases of PS. We reviewed 27 individuals presenting with a syndromic frontonasal polyp and initially referred for PS. Based on strict clinical classification criteria, we could confirm only nine (33%) typical and two (7%) atypical PS individuals. The remaining ones were either OAFNS (11/27-41%) or presenting with an overlapping syndrome (5/27-19%). Because of the phenotypic overlap between these entities, OAFNS, ECCL, and SC can be either considered as differential diagnosis of PS or part of the same spectrum. Exome and/or genome sequencing from blood DNA in 12 patients and from affected tissue in one patient failed to identify any replication in candidate genes. Taken together, our data suggest that conventional approaches routinely utilized for the identification of molecular etiologies responsible for Mendelian disorders are inconclusive. Future studies on affected tissues and multiomics studies will thus be required in order to address either the contribution of mosaic or noncoding variation in these diseases.
Identifiants
pubmed: 35445792
doi: 10.1002/ajmg.a.62739
doi:
Types de publication
Journal Article
Review
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2036-2047Informations de copyright
© 2022 Wiley Periodicals LLC.
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