Cri du Chat Syndrome and Primary Ciliary Dyskinesia: A Common Genetic Cause on Chromosome 5p

Shapiro, Adam J.; Weck, Karen E.; Chao, Kay C.; Rosenfeld, Margaret; Nygren, Anders O.H.; Knowles, Michael R.; Leigh, Margaret W.; Zariwala, Maimoona A.

doi:10.1016/j.jpeds.2014.06.048

Cited by 15 publications

(10 citation statements)

References 12 publications

(20 reference statements)

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“…Cri du Chat syndrome can occur with PCD due to a large deletion on chromosome 5p and a point mutation in DNAH5 on the remaining chromosome. 22 Glanzmann Thrombasthenia (associated with ITGB3) can occur with PCD (associated with CCDC103) through mutations in the neighboring genes on chromosome 17. 95 Alternatively, PCD can co-exist with other rare diseases through disease-causing mutations which are not in close genetic proximity; such as cystic fibrosis due to mutations in CFTR (Chr7q) with PCD due to mutations in DNAH11 (Chr7p), 96 and Miller Syndrome due to mutations in DHODH (chr 16) with PCD due to mutations in DNAH5 (Chr5).…”

Section: Diseases That Co-exist With Pcdmentioning

confidence: 99%

“…17,18 Furthermore, PCD is often missed when respiratory symptoms are present in patients with other complex diseases involving cilia, such as heterotaxy and various genetic syndromes. [19][20][21][22] From a therapeutic perspective, there are no prospective, randomized clinical trials on monitoring or treating PCD. Thus, physicians treating PCD adapt therapeutic approaches used for other chronic respiratory diseases, such as cystic fibrosis (CF) and non-CF bronchiectasis.…”

Section: Introductionmentioning

confidence: 99%

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Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

Shapiro

Zariwala

Ferkol

et al. 2015

Pediatric Pulmonology

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438

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SummaryPrimary ciliary dyskinesia (PCD) is a genetically heterogeneous, rare lung disease resulting in chronic oto‐sino‐pulmonary disease in both children and adults. Many physicians incorrectly diagnose PCD or eliminate PCD from their differential diagnosis due to inexperience with diagnostic testing methods. Thus far, all therapies used for PCD are unproven through large clinical trials. This review article outlines consensus recommendations from PCD physicians in North America who have been engaged in a PCD centered research consortium for the last 10 years. These recommendations have been adopted by the governing board of the PCD Foundation to provide guidance for PCD clinical centers for diagnostic testing, monitoring, and appropriate short and long‐term therapeutics in PCD patients. Pediatr Pulmonol. 2016;51:115–132. © 2015 The Authors. Pediatric Pulmonology Published by Wiley Periodicals, Inc.

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Section: Diseases That Co-exist With Pcdmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

Shapiro

Zariwala

Ferkol

et al. 2015

Pediatric Pulmonology

Self Cite

341

438

View full text Add to dashboard Cite

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“…PCD is an autosomal recessive disorder caused by mutations in the dynein axonemal heavy chain 5 ( DNAH5 ) gene (13,690,437–13,944,589) which results in ciliary dysmotility. Because DNAH5 is located on 5p, individuals with 5p deletions in trans with a DNAH5 mutation have been affected with PCD [Shapiro et al, ]. Identification of PCD and other autosomal recessive conditions in 5p− are thus important for specialized management and clinical care.…”

Section: Clinical Characterizationmentioning

confidence: 99%

5p deletions: Current knowledge and future directions

Nguyen¹,

Qualmann²,

Okashah³

et al. 2015

American J of Med Genetics Pt C

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Disorders resulting from 5p deletions (5p–) were first recognized by Lejeune et al. in 1963 [Lejeune et al. (1963); C R Hebd Seances Acad Sci 257:3098-3102]. 5p– is caused by partial or total deletion of the short arm of chromosome 5. The most recognizable phenotype is characterized by a high-pitched cry, dysmorphic features, poor growth, and developmental delay. This report reviews 5p– disorders and their molecular basis. Hemizygosity for genes located within this region have been implicated in contributing to the phenotype. A review of the genes on 5p which may be dosage sensitive is summarized. Because of the growing knowledge of these specific genes, future directions to explore potential targeted therapies for individuals with 5p– are discussed.

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“…Individuals with mutations in RSPH1 have a milder clinical phenotype and higher nNO measures as compared to other PCD patients 32 . A recent publication notes the presence of PCD in patients Cri du Chat Syndrome (CdCS) who are hemizygous for a DNAH5 mutation due to the 5p segmental deletion attributed to CdCS on the opposite chromosome 35 .…”

Section: Diagnosis (Figure 2)mentioning

confidence: 99%

Genetics, diagnosis and future treatment strategies for primary ciliary dyskinesia

Daniels

Noone

2014

Expert Opinion on Orphan Drugs

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Introduction Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder resulting in chronic oto-sino-pulmonary disease. While PCD is estimated to occur in 1 in 20,000 individuals, fewer than 1,000 patients in the US have a well-established diagnosis. Areas Covered We provide an overview of the clinical manifestations of PCD, describe the evolution of diagnostic methods, and critique the literature on management of PCD. Expert Opinion Although interest in clinical studies in non-CF bronchiectasis has increased in recent years, some of whom enroll patients with PCD, the literature regarding therapy for PCD as a distinct entity is lacking, as the numbers are small, and there have been no sub-analyses published. However, with improved screening and diagnostic methods, the development of clinical and research consortiums, and actively enrolling registries of PCD patients, the environment is conducive to perform longitudinal studies of disease course and therapeutic studies to alter that course.

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Cri du Chat Syndrome and Primary Ciliary Dyskinesia: A Common Genetic Cause on Chromosome 5p

Cited by 15 publications

References 12 publications

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review

5p deletions: Current knowledge and future directions

Genetics, diagnosis and future treatment strategies for primary ciliary dyskinesia

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