Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation

Kantaputra, Piranit Nik; Kapoor, Seema; Verma, Prashant; Kaewgahya, Massupa; Kawasaki, Keisuke; Ohazama, Atsushi; Cairns, James R. Ketudat

doi:10.1016/j.ejmg.2017.09.005

Cited by 9 publications

(6 citation statements)

References 22 publications

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“…The role of Wnt signaling in tooth morphogenesis and differentiation has been well-established in mouse and zebrafish [72][73][74][75][76], and indicted in multiple human tooth phenotypes [77][78][79][80][81][82][83][84]. Using in situ hybridizations (ISHs) on thin sections through zebrafish and stickleback tooth plates, we compared the expression of Wnt10a and Lef1 in zebrafish and sticklebacks (Fig.…”

Section: Wnt Signaling Activation In Zebrafish and Stickleback Replacement Tooth Germsmentioning

confidence: 99%

Distinct tooth regeneration systems deploy a conserved battery of genes

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Sundaram

Mackey

et al. 2021

EvoDevo

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Background Vertebrate teeth exhibit a wide range of regenerative systems. Many species, including most mammals, reptiles, and amphibians, form replacement teeth at a histologically distinct location called the successional dental lamina, while other species do not employ such a system. Notably, a ‘lamina-less’ tooth replacement condition is found in a paraphyletic array of ray-finned fishes, such as stickleback, trout, cod, medaka, and bichir. Furthermore, the position, renewal potential, and latency times appear to vary drastically across different vertebrate tooth regeneration systems. The progenitor cells underlying tooth regeneration thus present highly divergent arrangements and potentials. Given the spectrum of regeneration systems present in vertebrates, it is unclear if morphologically divergent tooth regeneration systems deploy an overlapping battery of genes in their naïve dental tissues. Results In the present work, we aimed to determine whether or not tooth progenitor epithelia could be composed of a conserved cell type between vertebrate dentitions with divergent regeneration systems. To address this question, we compared the pharyngeal tooth regeneration processes in two ray-finned fishes: zebrafish (Danio rerio) and threespine stickleback (Gasterosteus aculeatus). These two teleost species diverged approximately 250 million years ago and demonstrate some stark differences in dental morphology and regeneration. Here, we find that the naïve successional dental lamina in zebrafish expresses a battery of nine genes (bmpr1aa, bmp6, cd34, gli1, igfbp5a, lgr4, lgr6, nfatc1, and pitx2), while active Wnt signaling and Lef1 expression occur during early morphogenesis stages of tooth development. We also find that, despite the absence of a histologically distinct successional dental lamina in stickleback tooth fields, the same battery of nine genes (Bmpr1a, Bmp6, CD34, Gli1, Igfbp5a, Lgr4, Lgr6, Nfatc1, and Pitx2) are expressed in the basalmost endodermal cell layer, which is the region most closely associated with replacement tooth germs. Like zebrafish, stickleback replacement tooth germs additionally express Lef1 and exhibit active Wnt signaling. Thus, two fish systems that either have an organized successional dental lamina (zebrafish) or lack a morphologically distinct successional dental lamina (sticklebacks) deploy similar genetic programs during tooth regeneration. Conclusions We propose that the expression domains described here delineate a highly conserved “successional dental epithelium” (SDE). Furthermore, a set of orthologous genes is known to mark hair follicle epithelial stem cells in mice, suggesting that regenerative systems in other epithelial appendages may utilize a related epithelial progenitor cell type, despite the highly derived nature of the resulting functional organs.

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Section: Wnt Signaling Activation In Zebrafish and Stickleback Replacement Tooth Germsmentioning

confidence: 99%

Distinct tooth regeneration systems deploy a conserved battery of genes

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Sundaram

Mackey

et al. 2021

EvoDevo

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“…La causa más común de alteraciones congénitas de las extremidades es la disrupción vascular, como el síndrome de bridas amnióticas. Otras causas incluyen agentes teratogénicos (talidomi-da, exceso de vitamina A), drogas ilícitas (cocaína, alcohol), diabetes mellitus, exposición a radiación y anomalías cromosómicas fetales (trisomía 18) (5,7,8) . Además de la talidomida como agente causal, existe evidencia de un patrón de herencia autosómica recesiva con marcada variabilidad de la expresión fenotípica (mutación del rasgo autosómico recesivo vinculado al cromosoma 8) (9) .…”

Section: Discussionunclassified

“…De igual forma, la trombocitopenia con aplasia radial es un trastorno autosómico recesivo raro relacionado con el gen RBM8A cuyas manifestaciones son trombocitopenia y deficiencia radial de la extremidad. Finalmente, el síndrome de defectos severos de las extremidades, hipersegmentación vertebral y polidactilia en espejo es un trastorno autosómico recesivo que se manifiesta como hipoplasia severa de las extremidades, polidactilia e hipersegmentación de la columna vertebral (8,11,12) .…”

Section: Discussionunclassified

Diagnóstico prenatal de tetrafocomelia fetal

Torres-Cepeda

Rondón-Tapía

2021

Rev peru ginecol obstet.

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Los defectos musculoesqueléticos de las extremidades fetales son raros. Las causas de estas anomalías incluyen síndrome de banda amniótica, exposición a agentes teratogénicos, consumo de drogas ilícitas, diabetes y herencia autosómica recesiva. La tetrafocomelia es una malformación musculoesquelética congénita rara caracterizada por agenesia total o parcial de los huesos largos de las extremidades, haciendo que las manos y los pies surjan directamente del tronco fetal. Su incidencia es de 0,62 casos por cada 100.000 nacidos vivos. Puede ocurrir como un defecto aislado, pero en ocasiones también puede asociarse con malformaciones craneofaciales y otras anomalías sistémicas. La evaluación ecográfica prenatal permite realizar el diagnóstico temprano de todas las alteraciones fetales, incluyendo la mayoría de las malformaciones musculoesqueléticas, Este debe realizarse en forma meticulosa e interpretarse con cautela, ya que debe buscarse la presencia de otras anomalías sistémicas asociadas. Se reporta un caso de diagnóstico prenatal de tetrafocomelia.

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“…Although there is phenotype overlap, the defect in Fuhrmann syndrome is less severe than that in AARRS syndrome, may be due to that the former is caused by partial loss of Wnt7a function, but the latter is caused by complete loss of Wnt7a function . Patients with Wnt7a mutation may present some other anomalies, such as tooth malformation, Santos syndrome, and absence of uterus . The reported Wnt7a mutations are summarized in Table …”

Section: Roles Of Wnt7a In Human Diseasesmentioning

confidence: 99%

“…Patients with Wnt7a mutation may present some other anomalies, such as tooth malformation, Santos syndrome, and absence of uterus . The reported Wnt7a mutations are summarized in Table …”

Section: Roles Of Wnt7a In Human Diseasesmentioning

confidence: 99%

Roles of Wnt7a in embryo development, tissue homeostasis, and human diseases

Lan

Wang

Huang

et al. 2019

J of Cellular Biochemistry

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Human Wnt family comprises 19 proteins which are critical to embryo development and tissue homeostasis. Binding to different frizzled (FZD) receptor, Wnt7a initiates both β‐catenin dependent pathway, and β‐catenin independent pathways such as PI3K/Akt, RAC/JNK, and extracellular signal‐regulated kinase 5/peroxisome proliferator‐activated receptor‐γ. In the embryo, Wnt7a plays a crucial role in cerebral cortex development, synapse formation, and central nervous system vasculature formation and maintenance. Wnt7a is also involved in the development of limb and female reproductive system. Wnt7a mutation leads to human limb malformations and animal female reproductive system defects. Wnt7a is implicated in homeostasis maintenance of skeletal muscle, cartilage, cornea and hair follicle, and Wnt7a treatment may be potentially applied in skeletal muscle dystrophy, corneal damage, wound repair, and hair follicle regeneration. Wnt7a plays dual roles in human tumors. Wnt7a is downregulated in lung cancers, functioning as a tumor suppressor, however, it is upregulated in several other malignancies such as ovarian cancer, breast cancer, and glioma, acting as a tumor promoter. Moreover, Wnt7a overexpression is associated with inflammation and fibrosis, but its roles need to be further investigated.

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Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation

Cited by 9 publications

References 22 publications

Distinct tooth regeneration systems deploy a conserved battery of genes

Distinct tooth regeneration systems deploy a conserved battery of genes

Diagnóstico prenatal de tetrafocomelia fetal

Roles of Wnt7a in embryo development, tissue homeostasis, and human diseases

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