Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.
Abnormalities, Multiple
Bone Diseases, Developmental
Bronchiectasis
/ genetics
Constipation
/ genetics
Craniofacial Abnormalities
Cystic Fibrosis Transmembrane Conductance Regulator
/ genetics
Deafness
Exome
/ genetics
Genomics
Humans
Intellectual Disability
Polycystic Kidney, Autosomal Dominant
/ genetics
Ubiquitin-Specific Peptidase 7
/ genetics
Exome Sequencing
CFTR
HAFOUS
PKD2
USP7
WES
cystic fibrosis
dual molecular diagnosis
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
16 05 2022
16 05 2022
Historique:
received:
11
04
2022
revised:
02
05
2022
accepted:
11
05
2022
entrez:
28
5
2022
pubmed:
29
5
2022
medline:
1
6
2022
Statut:
epublish
Résumé
The co-occurrence of pathogenic variants has emerged as a relatively common finding underlying complex phenotypes. Here, we used whole-exome sequencing (WES) to solve an unclassified multisystem clinical presentation. A 20-year-old woman affected by moderate intellectual disability (ID), dysmorphic features, hypertrichosis, scoliosis, recurrent bronchitis, and pneumonia with bronchiectasis, colelithiasis, chronic severe constipation, and a family history suggestive of autosomal dominant recurrence of polycystic kidney disease was analyzed by WES to identify the genomic events underlying the condition. Four co-occurring genomic events fully explaining the proband's clinical features were identified. A de novo truncating The co-occurring variants in
Identifiants
pubmed: 35627274
pii: genes13050889
doi: 10.3390/genes13050889
pmc: PMC9141324
pii:
doi:
Substances chimiques
Cystic Fibrosis Transmembrane Conductance Regulator
126880-72-6
USP7 protein, human
EC 3.4.19.12
Ubiquitin-Specific Peptidase 7
EC 3.4.19.12
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
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