Clinical characteristics of individual organ system disease in non-motile ciliopathies

Grochowsky, Angela; Gunay‐Aygun, Meral

doi:10.3233/trd-190033

Cited by 20 publications

(21 citation statements)

References 111 publications

(229 reference statements)

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“…The overlapping clinical spectrum of ciliopathy syndromes has been reported previously (Braun & Hildebrandt, 2017; Grochowsky & Gunay‐Aygun, 2019; Shaheen et al, 2016; Ware et al, 2011 and Yamada et al, 2019). Indeed, there are several reports of individuals with features of both Joubert syndrome and oral‐facial‐digital syndrome and Joubert syndrome and Jeune syndrome (Bhardwaj, Sharma, & Ahluwalia, 2018; Franco & Thauvin‐Robinet, 2016; Johnston et al, 2017; Lehman et al, 2010; Parisi, 2019 and Wentzensen et al, 2015).…”

Section: Discussionsupporting

confidence: 66%

Ciliopathies: Coloring outside of the lines

Strong

Liu

Mentch

et al. 2020

American J of Med Genetics Pt A

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Ciliopathy syndromes are a diverse spectrum of disease characterized by a combination of cystic kidney disease, hepatobiliary disease, retinopathy, skeletal dysplasia, developmental delay, and brain malformations. Though generally divided into distinct disease categories based on the pattern of system involvement, ciliopathy syndromes are known to display certain phenotypic overlap. We performed next‐generation sequencing panel testing, clinical exome sequencing, and research‐based exome sequencing reanalysis on patients with suspected ciliopathy syndromes with additional features. We identified biallelic pathogenic variants in BBS1 in a child with features of cranioectodermal dysplasia, and biallelic variants in BBS12 in a child with the clinical stigmata of Bardet‐Biedl syndrome, but also with anal atresia. We additionally identified biallelic pathogenic variants in WDR35 and DYNC2H1 in children with predominant liver disease and ductal plate malformation without skeletal dysplasia. Our study highlights the phenotypic and genetic diversity of ciliopathy syndromes, the importance of considering ciliopathy syndromes as a disease‐spectrum and screening for all associated complications in all patients, and describes exclusive extra‐skeletal manifestations in two classical skeletal dysplasia syndromes.

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Section: Discussionsupporting

confidence: 66%

Ciliopathies: Coloring outside of the lines

Strong

Liu

Mentch

et al. 2020

American J of Med Genetics Pt A

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“…As suggested by the name, proteins involved in ciliopathies are located either inside or at the base of the primary cilium [ 15 ]. Mutations in the genes responsible for primary cilia formation cause defective ciliary function in nonmotile ciliopathies and, thus, trigger various developmental and degenerative phenotypes in different tissues such as kidney, retina, and brain [ 16 , 17 ]. Human patients with ciliopathies, such as Joubert syndrome, can show pronounced abnormalities in the formation of the central nervous system (CNS).…”

Section: Introductionmentioning

confidence: 99%

Investigating Primary Cilia during Peripheral Nervous System Formation

Yusifov

Dumoulin

Stoeckli

2021

IJMS

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The primary cilium plays a pivotal role during the embryonic development of vertebrates. It acts as a somatic signaling hub for specific pathways, such as Sonic Hedgehog signaling. In humans, mutations in genes that cause dysregulation of ciliogenesis or ciliary function lead to severe developmental disorders called ciliopathies. Beyond its role in early morphogenesis, growing evidence points towards an essential function of the primary cilium in neural circuit formation in the central nervous system. However, very little is known about a potential role in the formation of the peripheral nervous system. Here, we investigate the presence of the primary cilium in neural crest cells and their derivatives in the trunk of developing chicken embryos in vivo. We found that neural crest cells, sensory neurons, and boundary cap cells all bear a primary cilium during key stages of early peripheral nervous system formation. Moreover, we describe differences in the ciliation of neuronal cultures of different populations from the peripheral and central nervous systems. Our results offer a framework for further in vivo and in vitro investigations on specific roles that the primary cilium might play during peripheral nervous system formation.

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“…As suggested by the name, proteins involved in ciliopathies are located either inside or at the base of primary cilia [15]. Mutations in genes responsible for primary cilia formation cause defective ciliary function in non-motile ciliopathies, and thus, trigger various developmental and degenerative phenotypes in different tissues such as the kidney, the retina and the brain [16,17]. Human patients with ciliopathies, such as Joubert syndrome, can show pronounced abnormalities in the formation of the central nervous system (CNS).…”

Section: Introductionmentioning

confidence: 99%

Investigating Primary Cilia during Peripheral Nervous System Formation

Yusifov

Dumoulin

Stoeckli

2021

Preprint

View full text Add to dashboard Cite

The primary cilium plays a pivotal role during embryonic development of vertebrates. It acts as a somatic signaling hub for specific pathways, such as sonic hedgehog signaling. In humans, mutations in genes that cause dysregulation of ciliogenesis or ciliary function lead to severe developmental disorders called ciliopathies. Beyond its obvious role in early morphogenesis, growing evidence points towards an essential function of the primary cilium in neural circuit formation in the central nervous system. However, very little is known about a potential role in the formation of the peripheral nervous system. Here, we investigated the presence of the primary cilium in neural crest cells and their derivatives in the trunk of the developing chicken embryo in vivo. We found that neural crest cells, sensory neurons, and boundary cap cells all bear a primary cilium during key stages of early peripheral nervous system formation. Moreover, we described differences in the ciliation of neuronal cultures of different populations from the peripheral and central nervous system. Our results offer a framework for further in vivo and in vitro investigations on specific roles that the primary cilium might play during peripheral nervous system formation.

show abstract

Clinical characteristics of individual organ system disease in non-motile ciliopathies

Cited by 20 publications

References 111 publications

Ciliopathies: Coloring outside of the lines

Ciliopathies: Coloring outside of the lines

Investigating Primary Cilia during Peripheral Nervous System Formation

Investigating Primary Cilia during Peripheral Nervous System Formation

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