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A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report
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A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report
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A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report
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Journal Article
A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report
2020
Overview
Background
Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic disorder caused by defects in motile cilia. The hallmark features of PCD are the chronic infections of the respiratory tract, moreover, clinical manifestations include also laterality defects and risk of male infertility.
Clinical phenotypes of PCD are the result of mutations in genes encoding components of axonema or factors involved in axonemal assembly. Recent studies have identified over 45 PCD-associated genes, therefore, molecular analysis represents a powerful diagnostic tool to confirm and uncover new genetic causes of this rare disease.
Case presentation
Here, we describe a female infant of Moroccan origin with normal pressure hydrocephalus (NPH) in addition to most common PCD symptoms. Transmission Electron Microscopy (TEM) and molecular tests, such as a Next generation Sequencing panel and a custom array CGH, were performed for diagnosis of PCD. TEM revealed outer dynein arm (ODA) defects, whilst molecular analyses detected a novel 6,9 kb microdeletion in
DNAI2
gene.
Conclusions
Since
DNAI2
mutations are very rare, this case report contributes to better delineate the important role of DNAI2 as causative of PCD phenotype, suggesting, furthermore, that the variations in
DNAI2
may be as a new genetic risk factor for NPH. Indeed, although the association of hydrocephalus with PCD has been well documented, however, only a small number of human patients show this defect.
Furthermore, this study highlights the importance of high-throughput technologies in advancing our understanding of heterogeneous genetic disorders.
Publisher
BioMed Central,BioMed Central Ltd,BMC
Subject
/ Biomedical and Life Sciences
/ Blood
/ Cilia
/ Ciliary Motility Disorders - diagnosis
/ Ciliary Motility Disorders - genetics
/ Ciliary Motility Disorders - pathology
/ Clinical-Molecular Genetics and Cytogenetics
/ Disease
/ DNA
/ DNAI2
/ Dynein
/ Female
/ Genes
/ Genomes
/ Humans
/ Hydrocephalus, Normal Pressure - diagnosis
/ Hydrocephalus, Normal Pressure - genetics
/ Hydrocephalus, Normal Pressure - pathology
/ Infant
/ Intracellular Signaling Peptides and Proteins - deficiency
/ Intracellular Signaling Peptides and Proteins - genetics
/ Mutation
/ Normal pressure hydrocephalus
/ Patients
/ Proteins
/ Software
