Dataset Information

Ena-DATASET-BAMS-05-01-2017-02:07:22:122-13 - samples

ABSTRACT: Whole exome sequencing data for patients with Bosma arhinia microphthalmia syndrome (BAMS). The dataset includes 21 samples from 7 families with BAMS; see Gordon et al, Nature Genetics, 2017.

PROVIDER: EGAD00001003130 | 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]

PMID: 28067911

Dataset Information

Ena-DATASET-BAMS-05-01-2017-02:07:22:122-13 - samples

Publications

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

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