Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
Loss of the cadherin FAT1 has been associated with nephropathy and epithelial cell adhesion defects. Here, the authors report five families with a syndromic form of coloboma associated with homozygous frameshift variants in FAT1 and recapitulate the phenotype in mutant mice and zebrafish.
Guardado en:
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Nature Portfolio
2019
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/545b350bd5bd4581abda47c5716aaca3 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
| id |
oai:doaj.org-article:545b350bd5bd4581abda47c5716aaca3 |
|---|---|
| record_format |
dspace |
| spelling |
oai:doaj.org-article:545b350bd5bd4581abda47c5716aaca32021-12-02T14:35:31ZHomozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly10.1038/s41467-019-08547-w2041-1723https://doaj.org/article/545b350bd5bd4581abda47c5716aaca32019-03-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-08547-whttps://doaj.org/toc/2041-1723Loss of the cadherin FAT1 has been associated with nephropathy and epithelial cell adhesion defects. Here, the authors report five families with a syndromic form of coloboma associated with homozygous frameshift variants in FAT1 and recapitulate the phenotype in mutant mice and zebrafish.Najim LahrouchiAman GeorgeIlham RatbiRonen SchneiderSiham C. ElalaouiShahida MoosaSanita BhartiRuchi SharmaMones Abu-AsabFelix OnojafeNajlae AdadiElisabeth M. LodderFatima-Zahra LaarabiYassine LamsyahHamza ElorchImane ChebbarAlex V. PostmaVassilios LougarisAlessandro PlebaniJanine AltmuellerHenriette KyrieleisVardiella MeinerHelen McNeillKapil BhartiStanislas LyonnetBernd WollnikAlexandra Henrion-CaudeAmina BerrahoFriedhelm HildebrandtConnie R. BezzinaBrian P. BrooksAbdelaziz SefianiNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-11 (2019) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q Najim Lahrouchi Aman George Ilham Ratbi Ronen Schneider Siham C. Elalaoui Shahida Moosa Sanita Bharti Ruchi Sharma Mones Abu-Asab Felix Onojafe Najlae Adadi Elisabeth M. Lodder Fatima-Zahra Laarabi Yassine Lamsyah Hamza Elorch Imane Chebbar Alex V. Postma Vassilios Lougaris Alessandro Plebani Janine Altmueller Henriette Kyrieleis Vardiella Meiner Helen McNeill Kapil Bharti Stanislas Lyonnet Bernd Wollnik Alexandra Henrion-Caude Amina Berraho Friedhelm Hildebrandt Connie R. Bezzina Brian P. Brooks Abdelaziz Sefiani Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly |
| description |
Loss of the cadherin FAT1 has been associated with nephropathy and epithelial cell adhesion defects. Here, the authors report five families with a syndromic form of coloboma associated with homozygous frameshift variants in FAT1 and recapitulate the phenotype in mutant mice and zebrafish. |
| format |
article |
| author |
Najim Lahrouchi Aman George Ilham Ratbi Ronen Schneider Siham C. Elalaoui Shahida Moosa Sanita Bharti Ruchi Sharma Mones Abu-Asab Felix Onojafe Najlae Adadi Elisabeth M. Lodder Fatima-Zahra Laarabi Yassine Lamsyah Hamza Elorch Imane Chebbar Alex V. Postma Vassilios Lougaris Alessandro Plebani Janine Altmueller Henriette Kyrieleis Vardiella Meiner Helen McNeill Kapil Bharti Stanislas Lyonnet Bernd Wollnik Alexandra Henrion-Caude Amina Berraho Friedhelm Hildebrandt Connie R. Bezzina Brian P. Brooks Abdelaziz Sefiani |
| author_facet |
Najim Lahrouchi Aman George Ilham Ratbi Ronen Schneider Siham C. Elalaoui Shahida Moosa Sanita Bharti Ruchi Sharma Mones Abu-Asab Felix Onojafe Najlae Adadi Elisabeth M. Lodder Fatima-Zahra Laarabi Yassine Lamsyah Hamza Elorch Imane Chebbar Alex V. Postma Vassilios Lougaris Alessandro Plebani Janine Altmueller Henriette Kyrieleis Vardiella Meiner Helen McNeill Kapil Bharti Stanislas Lyonnet Bernd Wollnik Alexandra Henrion-Caude Amina Berraho Friedhelm Hildebrandt Connie R. Bezzina Brian P. Brooks Abdelaziz Sefiani |
| author_sort |
Najim Lahrouchi |
| title |
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly |
| title_short |
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly |
| title_full |
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly |
| title_fullStr |
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly |
| title_full_unstemmed |
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly |
| title_sort |
homozygous frameshift mutations in fat1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly |
| publisher |
Nature Portfolio |
| publishDate |
2019 |
| url |
https://doaj.org/article/545b350bd5bd4581abda47c5716aaca3 |
| work_keys_str_mv |
AT najimlahrouchi homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT amangeorge homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT ilhamratbi homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT ronenschneider homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT sihamcelalaoui homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT shahidamoosa homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT sanitabharti homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT ruchisharma homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT monesabuasab homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT felixonojafe homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT najlaeadadi homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT elisabethmlodder homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT fatimazahralaarabi homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT yassinelamsyah homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT hamzaelorch homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT imanechebbar homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT alexvpostma homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT vassilioslougaris homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT alessandroplebani homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT janinealtmueller homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT henriettekyrieleis homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT vardiellameiner homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT helenmcneill homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT kapilbharti homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT stanislaslyonnet homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT berndwollnik homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT alexandrahenrioncaude homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT aminaberraho homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT friedhelmhildebrandt homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT connierbezzina homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT brianpbrooks homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly AT abdelazizsefiani homozygousframeshiftmutationsinfat1causeasyndromecharacterizedbycolobomatousmicrophthalmiaptosisnephropathyandsyndactyly |
| _version_ |
1718391128225480704 |