Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants.

ABSTRACT:

Objective

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.

Patients and methods

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.

Results

Four co-occurring genomic events fully explaining the proband's clinical features were identified. A de novo truncating USP7

SUBMITTER: Priolo M 

PROVIDER: S-EPMC9141324 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature