Journal of Medical Genetics: 57 (6)

Developmental defects

Review: Mutations in gene regulatory elements linked to human limb malformations (19 December, 2019)
Karol Nowosad, Ewa Hordyjewska-Kowalczyk, Przemko Tylzanowski
Original research:
Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice
(30 December, 2019)
Xiaojun Ren, Nan Yang, Nan Wu, Ximing Xu, Weisheng Chen, Ling Zhang, Yingping Li, Ren-Qian Du, Shuangshuang Dong, Sen Zhao, Shuxia Chen, Li-Ping Jiang, Lianlei Wang, Jianguo Zhang, Zhihong Wu, Li Jin, Guixing Qiu, James R Lupski, Jiangang Shi, Feng Zhang, Pengfei Liu

Original research:
Retesting of women who are negative for a BRCA1 and BRCA2 mutation using a 20-gene panel
(29 November, 2019)
Jordan Lerner-Ellis, Victoria Sopik, Andrew Wong, Conxi Lázaro, Steven A Narod, George S Charames
Short report: Evidence for heightened genetic instability in precancerous spasmolytic polypeptide expressing gastric glands (15 March, 2019)
Jiangrong Chen, Chunchao Zhu, Chaojie Wang, Chuansheng Hu, Daniel M Czajkowsky, Yan Guo, Bingya Liu, Zhifeng Shao

Original research:
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
(3 February, 2020) Free
Hala Nasser, Liza Vera, Monique Elmaleh-Bergès, Katharina Steindl, Pascaline Letard, Natacha Teissier, Anais Ernault, Fabien Guimiot, Alexandra Afenjar, Marie Laure Moutard, Delphine Héron, Yves Alembik, Martha Momtchilova, Paolo Milani, Nathalie Kubis, Nathalie Pouvreau, Marcella Zollino, Sophie Guilmin Crepon, Florentia Kaguelidou, Pierre Gressens, Alain Verloes, Anita Rauch, Vincent El Ghouzzi, Severine Drunat, Sandrine Passemard
Short report: Novel CCM2 missense variants abrogating the CCM1–CCM2 interaction cause cerebral cavernous malformations (14 January, 2020)
Françoise Bergametti, Geraldine Viot, Christophe Verny, Marie Pierre Brechard, Christian Denier, Pierre Labauge, Paul Petit, Aurélien Nouet, François Viallet, Annabelle Chaussenot, Dominique Hervé, Elisabeth Tournier-Lasserve, Florence Riant

Original research:
Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis
(7 May, 2020)
Heng Jiang, Shulun Liang, Kai He, Jinghua Hu, Enjie Xu, Tao Lin, Yichen Meng, Jianquan Zhao, Jun Ma, Rui Gao, Ce Wang, Fu Yang, Xuhui Zhou

Original research: ATR-16 syndrome: mechanisms linking monosomy to phenotype (31 January, 2020)
Christian Babbs, Jill Brown, Sharon W Horsley, Joanne Slater, Evie Maifoshie, Shiwangini Kumar, Paul Ooijevaar, Marjolein Kriek, Amanda Dixon-McIver, Cornelis L Harteveld, Jan Traeger-Synodinos, Andrew O M Wilkie, Douglas R Higgs, Veronica J Buckle
Short report:
A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant
(19 December, 2019)
Nivedita Patni, Sarah Hatab, Chao Xing, Zhengyang Zhou, Claudia Quittner, Abhimanyu Garg