Ontology highlight
ABSTRACT:
SUBMITTER: Chang HR
PROVIDER: S-EPMC6407524 | biostudies-literature | 2019 Mar
REPOSITORIES: biostudies-literature
Chang Hae Ryung HR Cho Sung Yoon SY Lee Jae Hoon JH Lee Eunkyung E Seo Jieun J Lee Hye Ran HR Cavalcanti Denise P DP Mäkitie Outi O Valta Helena H Girisha Katta M KM Lee Chung C Neethukrishna Kausthubham K Bhavani Gandham S GS Shukla Anju A Nampoothiri Sheela S Phadke Shubha R SR Park Mi Jung MJ Ikegawa Shiro S Wang Zheng Z Higgs Martin R MR Stewart Grant S GS Jung Eunyoung E Lee Myeong-Sok MS Park Jong Hoon JH Lee Eun A EA Kim Hongtae H Myung Kyungjae K Jeon Woosung W Lee Kyoungyeul K Kim Dongsup D Kim Ok-Hwa OH Choi Murim M Lee Han-Woong HW Kim Yonghwan Y Cho Tae-Joon TJ
American journal of human genetics 20190214 3
SPONASTRIME dysplasia is a rare, recessive skeletal dysplasia characterized by short stature, facial dysmorphism, and aberrant radiographic findings of the spine and long bone metaphysis. No causative genetic alterations for SPONASTRIME dysplasia have yet been determined. Using whole-exome sequencing (WES), we identified bi-allelic TONSL mutations in 10 of 13 individuals with SPONASTRIME dysplasia. TONSL is a multi-domain scaffold protein that interacts with DNA replication and repair factors an ...[more]