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    A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families by Xueling Wang, Longhao Wang, Hu Peng, Tao Yang, Hao Wu

    Published 2018-01-01
    “…In this study, targeted next-generation sequencing (NGS) in two Chinese Han families identified a novel p.G141R homozygous mutation in ILDR1 as the genetic cause of the deafness. …”
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  3. 643

    De Novo Mutation of m.3243A>G together with m.16093T>C Associated with Atypical Clinical Features in a Pedigree with MIDD Syndrome by Zhixin Jiang, Yinan Zhang, Jingbin Yan, Fengwen Li, Xinqian Geng, Huijuan Lu, Xiaoer Wei, Yanmei Feng, Congrong Wang, Weiping Jia

    Published 2019-01-01
    “…The syndrome of maternally inherited diabetes and deafness (MIDD) is typically caused by the m.3243A>G mutation and widely considered maternally inherited. …”
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    A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy by Mohammad A. Alqahtani, Ayed A. Shati, Minjing Zou, Ali M. Alsuheel, Abdullah A. Alhayani, Saleh M. Al-Qahtani, Hessa M. Gilban, Brain F. Meyer, Yufei Shi

    Published 2015-01-01
    “…The mutation created a premature stop codon at amino acid 260 (p.W260∗), resulting in a truncated protein devoid of 11β-hydroxylase activity. …”
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