Article
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Nature genetics - 1 Feb 2017
Gordon Christopher T, Xue Shifeng, Yigit Gökhan, Filali Hicham, Chen Kelan, Rosin Nadine, Yoshiura Koh-Ichiro, Oufadem Myriam, Beck Tamara J, McGowan Ruth, Magee Alex C, Altmüller Janine, Dion Camille, Thiele Holger, Gurzau Alexandra D, Nürnberg Peter, Meschede Dieter, Mühlbauer Wolfgang, Okamoto Nobuhiko, Varghese Vinod, Irving Rachel, Sigaudy Sabine, Williams Denise, Ahmed S Faisal, Bonnard Carine, Kong Mung Kei, Ratbi Ilham, Fejjal Nawfal, Fikri Meriem, Elalaoui Siham Chafai, Reigstad Hallvard, Bole-Feysot Christine, Nitschké Patrick, Ragge Nicola, Lévy Nicolas, Tunçbilek Gökhan, Teo Audrey S M, Cunningham Michael L, Sefiani Abdelaziz, Kayserili Hülya, Murphy James M, Chatdokmaiprai Chalermpong, Hillmer Axel M, Wattanasirichaigoon Duangrurdee, Lyonnet Stanislas, Magdinier Frédérique, Javed Asif, Blewitt Marnie E, Amiel Jeanne, Wollnik Bernd, Reversade Bruno
Abstract excerpt
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...
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