Genomics

Dataset Information

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Data access committee for BAMS exome sequencing data.

ABSTRACT: Data Access Committee EGAC00001000583

PROVIDER: EGAC00001000583 | EGA |

REPOSITORIES: EGA

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Publications

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

Gordon Christopher T CT   Xue Shifeng S   Yigit Gökhan G   Filali Hicham H   Chen Kelan K   Rosin Nadine N   Yoshiura Koh-Ichiro KI   Oufadem Myriam M   Beck Tamara J TJ   McGowan Ruth R   Magee Alex C AC   Altmüller Janine J   Dion Camille C   Thiele Holger H   Gurzau Alexandra D AD   Nürnberg Peter P   Meschede Dieter D   Mühlbauer Wolfgang W   Okamoto Nobuhiko N   Varghese Vinod V   Irving Rachel R   Sigaudy Sabine S   Williams Denise D   Ahmed S Faisal SF   Bonnard Carine C   Kong Mung Kei MK   Ratbi Ilham I   Fejjal Nawfal N   Fikri Meriem M   Elalaoui Siham Chafai SC   Reigstad Hallvard H   Bole-Feysot Christine C   Nitschké Patrick P   Ragge Nicola N   Lévy Nicolas N   Tunçbilek Gökhan G   Teo Audrey S M AS   Cunningham Michael L ML   Sefiani Abdelaziz A   Kayserili Hülya H   Murphy James M JM   Chatdokmaiprai Chalermpong C   Hillmer Axel M AM   Wattanasirichaigoon Duangrurdee D   Lyonnet Stanislas S   Magdinier Frédérique F   Javed Asif A   Blewitt Marnie E ME   Amiel Jeanne J   Wollnik Bernd B   Reversade Bruno B  

Nature genetics 20170109 2

Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behav  ...[more]

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