scholarly journals A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Maria Santa Rocca ◽  
Gioia Piatti ◽  
Angela Michelucci ◽  
Raffaella Guazzo ◽  
Veronica Bertini ◽  
...  
Keyword(s):  
Case Report ◽  
Primary Ciliary Dyskinesia ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Normal Pressure ◽  
Chronic Infections ◽  
Molecular Tests ◽  
Genes Encoding ◽  
Ciliary Dyskinesia

Abstract 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.

scholarly journals Kartagener Syndrome: A Rare Genetic Disorder

2009 ◽  
Vol 48 (173) ◽  
Author(s):  
Kunjan Shakya
Keyword(s):  
Situs Inversus ◽  
Primary Ciliary Dyskinesia ◽  
Autosomal Recessive ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Kartagener Syndrome ◽  
Irreversible Damage ◽  
History Of ◽  
Ciliary Dyskinesia

Kartagener Syndrome is a rare autosomal recessive disorder consisting of triad of sinusitis, bronchiectasis and situs inversus with dextrocardia. It is the subset of disorder called primary ciliary dyskinesia in which the cilia have abnormal structure and/or function resulting in multisystem diseases of various severity. Clinical manifestations include lifelong, chronic upper and lower respiratory tract diseases secondary to ineffective mucociliary clearance. Early diagnosis and management of chest infections can prevent irreversible damage to lungs and prevent potential lifelong complications. This case report is on a patient who presented with long standing history of sinusitis, bronchiectasis and on examination situs inversus with dextrocardia.Key Words:bronchiectasis, dextrocardia, kartagener syndrome, primary ciliary dyskinesia, situs inversus

scholarly journals Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia

2019 ◽  
Vol 57 (4) ◽  
pp. 237-244 ◽  
Author(s):  
Sylvain Blanchon ◽  
Marie Legendre ◽  
Mathieu Bottier ◽  
Aline Tamalet ◽  
Guy Montantin ◽  
...  
Keyword(s):  
Primary Ciliary Dyskinesia ◽  
High Speed ◽  
Genetic Disorder ◽  
Beat Frequency ◽  
Ciliary Beat Frequency ◽  
Central Complex ◽  
Ciliary Beating ◽  
Recovery Stroke ◽  
Biallelic Mutations ◽  
Ciliary Dyskinesia

BackgroundPrimary ciliary dyskinesia (PCD) is a rare genetic disorder resulting in abnormal ciliary motility/structure, extremely heterogeneous at genetic and ultrastructural levels. We aimed, in light of extensive genotyping, to identify specific and quantitative ciliary beating anomalies, according to the ultrastructural phenotype.MethodsWe prospectively included 75 patients with PCD exhibiting the main five ultrastructural phenotypes (n=15/group), screened all corresponding PCD genes and measured quantitative beating parameters by high-speed video-microscopy (HSV).ResultsSixty-eight (91%) patients carried biallelic mutations. Combined outer/inner dynein arms (ODA/IDA) defect induces total ciliary immotility, regardless of the gene involved. ODA defect induces a residual beating with dramatically low ciliary beat frequency (CBF) related to increased recovery stroke and pause durations, especially in case of DNAI1 mutations. IDA defect with microtubular disorganisation induces a low percentage of beating cilia with decreased beating angle and, in case of CCDC39 mutations, a relatively conserved mean CBF with a high maximal CBF. Central complex defect induces nearly normal beating parameters, regardless of the gene involved, and a gyrating motion in a minority of ciliated edges, especially in case of RSPH1 mutations. PCD with normal ultrastructure exhibits heterogeneous HSV values, but mostly an increased CBF with an extremely high maximal CBF.ConclusionQuantitative HSV analysis in PCD objectives beating anomalies associated with specific ciliary ultrastructures and genotypes. It represents a promising approach to guide the molecular analyses towards the best candidate gene(s) to be analysed or to assess the pathogenicity of the numerous sequence variants identified by next-generation-sequencing.

Case report of neurofibromatosis type 1 combined with primary ciliary dyskinesia

2021 ◽  
Author(s):  
Chun Bian ◽  
Xinyue Zhao ◽  
Yaping Liu ◽  
Minjiang Chen ◽  
Shuying Zheng ◽  
...  
Keyword(s):  
Case Report ◽  
Neurofibromatosis Type 1 ◽  
Primary Ciliary Dyskinesia ◽  
Neurofibromatosis Type ◽  
Ciliary Dyskinesia

Abnormal length of cilia—a cause of primary ciliary dyskinesia—a case report

1992 ◽  
Vol 151 (1) ◽  
pp. 73-75 ◽  
Author(s):  
B. Niggemann ◽  
A. Müller ◽  
Anke Nolte ◽  
N. Schnoy ◽  
U. Wahn
Keyword(s):  
Case Report ◽  
Primary Ciliary Dyskinesia ◽  
Ciliary Dyskinesia

scholarly journals Immunoglobulin a nephropathy as the first clinical presentation of Wilson disease: a case report and literature review

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yong-Zhe Zhang ◽  
Geng Jian ◽  
Ping He ◽  
Rui Yu ◽  
Mi Tian ◽  
...  
Keyword(s):  
Iga Nephropathy ◽  
Wilson Disease ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Immunoglobulin A ◽  
Elevated Serum ◽  
Clinical Manifestations ◽  
Kidney Injury ◽  
Copper Metabolism ◽  
Atypical Presentations

Abstract Background Wilson disease (WD) is a rare genetic disorder of copper metabolism. Differences in copper tissue accumulation lead to various clinical manifestations, including some atypical presentations. The complex clinical features of WD make diagnosis challenging, delaying the best chance for treatment. Case presentation We report a case of a 26-year-old man with nephritis-range proteinuria and elevated serum creatinine. The renal pathology indicated immunoglobulin A (IgA) nephropathy and tubular injury, which was inconsistent with glomerular lesions. Cirrhosis was also detected by imaging examination. Considering both kidney injury and liver damage, WD was suspected. Based on results showing abnormal copper metabolism, corneal Kayser–Fleischer rings, and genetic disorders in the ATP7B gene, the patient was finally diagnosed with WD. After treatment with oral penicillamine, zinc sulfate and losartan, the patient showed alleviation of both WD and nephropathy after 3 years of follow-up. He maintained a good quality of daily life. Conclusion This case highlights that unexplained neurological and liver symptoms in patients with IgA nephropathy can be clues for WD.

scholarly journals Manifestaciones clínicas asociadas al síndrome de Prader-Willi: Revisión Descriptiva

2018 ◽  
Vol 30 (1) ◽  
Author(s):  
Jesús Dzul Hernández ◽  
Rossana Borges Cauich ◽  
Montserrat Rodríguez Huchim ◽  
Guillermo Pérez Correa ◽  
Nina Mendez-Dominguez ◽  
...  
Keyword(s):  
Genetic Disorders ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Low Frequency ◽  
Signs And Symptoms ◽  
Diagnostic Techniques ◽  
Prader Willi Syndrome ◽  
Specific Patient ◽  
Calidad De Vida ◽  
Wide Range

RESUMEN El síndrome de Prader–Willi (SPW) es un trastorno genético, que afecta el neurodesarrollo que, a pesar de su baja frecuencia, merece ser considerado como un trastorno de relevancia clínica al ser la causa más frecuente de obesidad de origen genético. Las manifestaciones clínicas que derivan de SPW tienen origen en la desregulación hipotalámica, por lo cual, comprendiendo la trascendencia e implicación de la afectación hipotalámica, puede comprenderse la amplia gama de manifestaciones que pueden presentarse con severidad variable y cuyas complicaciones su vez la afectación a la salud y socialización a largo plazo afectando la calidad de vida de los pacientes con SPW. Un diagnóstico preciso permite distinguir este síndrome de otros trastornos genéticos y de otras patologías que afectan la función hipotalámica a la vez que permite estimar la gravedad de las manifestaciones y el riesgo de repetición en una misma familia. Por ello, la presente revisión descriptiva se ofrece con el objetivo de describir las manifestaciones clínicas del síndrome de Prader-Willi que orienten la sospecha clínica, las similitudes que presenta este síndrome con otros trastornos, así como presentar las técnicas de diagnóstico disponibles que permiten orientar adecuadamente el abordaje de los pacientes y facilitar su manejo integral oportunamente.ABSTRACT: Prader-Willi syndrome (PWS) is a genetic disorder that affects neurodevelopment, which, despite its low frequency, deserves to be considered a clinically relevant disorder since it is the most frequent cause of genetically derived obesity. The clinical manifestations that derive from SPW correlate to those from a hypothalamic dysregulation, so that, understanding the importance and implication of the hypothalamic involvement, the wide range of manifestations that can present with variable severity and whose complications in turn affect the health can be understood. and long-term socialization affecting the quality of life of patients with PWS. An accurate diagnosis can discriminate this syndrome from other genetic disorders and from non-genetic pathologies that affect hypothalamic function, while also allowing to estimate the severity in a specific patient and the risk of repetition in other family members. Therefore, the present descriptive review is aimed to describe the clinical manifestations of Prader-Willi syndrome to guide the clinical diagnosis; the signs and symptoms that can differentiate this syndrome from other disorders, as well as presenting a description of the actual diagnostic techniques that can allow a prompt and precise diagnosis, and thus, translate in a comprehensive and timely approach of the patients with PWS.

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