Novel mutation in <i>EFCAB7</i> alters expression and interaction of Ellis–van Creveld ciliary proteins

Nguyen, Tran Quynh Nhu; Doan, Nguyen Minh Thien; Trinh, Huu Tung; Mizuguchi, Masashi

doi:10.1111/cga.12291

Cited by 3 publications

(3 citation statements)

References 5 publications

(6 reference statements)

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“…2,3 Genes encoding proteins involved in SHH signaling regulation, such as EFCAB7, or in dynein transport, such as DYNC2LI1, are emerging as having a role in pathogenesis of EVCS. 4,5 Clinically, EVCS is characterized by a tetrad of main features: disproportionate dwarfism and shortening of the middle and distal phalanges, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations occurring in about 50-60% of the cases. 6 Dysplastic nails, abnormal hair growth, conical teeth or hypodontia are common features, although the spectrum of manifestations derived from involvement of ectoderm is very wide.…”

Section: Diagnosis: Ellis-van Creveld Syndrome Discussionmentioning

confidence: 99%

“…Nevertheless, EVC and EVC2 mutations do not account for all patients but are detectable in a percentage ranging from 69% to 84% of cases and other genes controlling primary cilia functions should be investigated 2,3 . Genes encoding proteins involved in SHH signaling regulation, such as EFCAB7 , or in dynein transport, such as DYNC2LI1 , are emerging as having a role in pathogenesis of EVCS 4,5 …”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Hypoplastic nails and brachydactyly in a girl with moderate acne and hirsutism

Bartolomeo

Benedetto

Giunta

et al. 2021

Pediatric Dermatology

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Section: Diagnosis: Ellis-van Creveld Syndrome Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Hypoplastic nails and brachydactyly in a girl with moderate acne and hirsutism

Bartolomeo

Benedetto

Giunta

et al. 2021

Pediatric Dermatology

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“…The tissue‐specific nature of EVC during the stages of development is evident from the fact that the neural tube in these mice had normal signaling with abnormalities in only certain specific structures such as the limb bud (Xavier et al, 2016). Other ciliary proteins such as EFCAB7 and IQCE have been identified that promote Hh signaling by facilitating the anchoring of EVC‐EVC2 at the base of the primary cilium (Nguyen, Doan, Trinh, & Mizuguchi, 2019).…”

Section: Role Of Evc/evc2 Complex In Primary Ciliamentioning

confidence: 99%

Role of primary cilia and Hedgehog signaling in craniofacial features of Ellis–van Creveld syndrome

Thomas

Moorthy²,

Prabhakar

et al. 2022

American J of Med Genetics Pt C

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Ellis–van Creveld syndrome (EvC) is an autosomal recessive genetic disorder involving pathogenic variants of EVC and EVC2 genes and classified as a ciliopathy. The syndrome is caused by mutations in the EVC gene on chromosome 4p16, and EVC2 gene, located close to the EVC gene, in a head‐to‐head configuration. Regardless of the affliction of EVC or EVC2, the clinical features of Ellis–van Creveld syndrome are similar. Both these genes are expressed in tissues such as, but not limited to, the heart, liver, skeletal muscle, and placenta, while the predominant expression in the craniofacial tissues is that of EVC2. Biallelic mutations of EVC and EVC2 affect Hedgehog signaling and thereby ciliary function, crucial factors in vertebrate development, culminating in the phenotypical features characteristic of EvC. The clinical features of Ellis–van Creveld syndrome are consistent with significant abnormalities in morphogenesis and differentiation of the affected tissues. The robust role of primary cilia in histodifferentiation and morphodifferentiation of oral, perioral, and craniofacial tissues is becoming more evident in the most recent literature. In this review, we give a summary of the mechanistic role of primary cilia in craniofacial development, taking Ellis–van Creveld syndrome as a representative example.

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