PA was corrected by genetic analysis. A novel SCNN1B frameshift mutation was identified, confirming the diagnosis of LS. Screening of four generations of the family members and the use of tailored medicine for LS patients provide better management
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Peng Fan, Chao-Xia Lu, Di Zhang, Kun-Qi Yang, Pei-Pei Lu, Ying Zhang, Xu Meng, Su-Fang Hao, Fang Luo, Ya-Xin Liu, Hui-Min Zhang, Lei Song, Jun Cai, Xue Zhang and Xian-Liang Zhou
Catarina I Gonçalves, José M Aragüés, Margarida Bastos, Luísa Barros, Nuno Vicente, Davide Carvalho and Manuel C Lemos
were previously described by Antelli and coworkers ( 8 ). The heterozygous frameshift mutation was confirmed by cloning of the PCR products using pGEM-T Easy Vector Systems (Promega Corporation), followed by DNA sequencing of each allele. Genomic
Lijuan Yuan, Xihui Chen, Ziyu Liu, Dan Wu, Jianguo Lu, Guoqiang Bao, Sijia Zhang, Lifeng Wang and Yuanming Wu
by half-blackened symbols. Squares and circles indicate males and females, respectively. The arrows indicate the probands in each family. P1 and P2 had a heterozygous frameshift mutation in combination with a heterozygous missense mutation, and the
Elena Pardi, Stefano Mariotti, Natalia S Pellegata, Katiuscia Benfini, Simona Borsari, Federica Saponaro, Liborio Torregrossa, Antonello Cappai, Chiara Satta, Marco Mastinu, Claudio Marcocci and Filomena Cetani
patient (41 years), which was similar to those previously reported for other MEN4 cases carrying nonsense or frameshift mutations of CDKN1B (W76X and K25fs), was older than the mean age of diagnosis of PHPT in patients with MEN1 syndrome (25 years) (30
Ruth Therese Casey, Deborah Saunders, Benjamin George Challis, Deborah Pitfield, Heok Cheow, Ashley Shaw and Helen Lisa Simpson
duration of disease at the time of review was 14.38 years (2–31 years). Five kindreds were included in the 43 patients analysed in this study ( Supplementary Table 1 ). In kindred 2, with a detected frameshift mutation in MENIN (c.1414delG, p.G472A fs*87
Hiren Patt, Katrin Koehler, Sailesh Lodha, Swati Jadhav, Chaitanya Yerawar, Angela Huebner, Kunal Thakkar, Sneha Arya, Sandhya Nair, Manjunath Goroshi, Hosahithlu Ganesh, Vijaya Sarathi, Anurag Lila, Tushar Bandgar and Nalini Shah
AAAS gene ( Fig. 1 ). Five patients had mutations in homozygous state, two patients in compound heterozygous state while one patient (patient 8) was heterozygous for a novel mutation (Supplementary Table 1). A previously reported frameshift mutation in
Marilena Nakaguma, Fernanda A Correa, Lucas S Santana, Anna F F Benedetti, Ricardo V Perez, Martha K P Huayllas, Mirta B Miras, Mariana F A Funari, Antonio M Lerario, Berenice B Mendonca, Luciani R S Carvalho, Alexander A L Jorge and Ivo J P Arnhold
. One pathogenic mutation located in a consensus splice site (c.57+1G>A) and another causing a frameshift mutation (c.820_821insC:p.Asp274Alafs*113) in GHRHR were found in homozygous state, each in one patient with IGHD. Two pathogenic variants in
Zi-Di Xu, Wei Zhang, Min Liu, Huan-Min Wang, Pei-Pei Hui, Xue-Jun Liang, Jie Yan, Yu-Jun Wu, Yan-Mei Sang, Cheng Zhu and Gui-Chen Ni
nonsense mutation and one frameshift mutation. Seven children carried GLUD1 gene mutations, one child carried the GCK gene mutation ( Fig. 1 ), two children carried HNF4α gene mutations ( Fig. 2 ) and one child carried a compound heterozygous
Ingeborg Brønstad, Lars Breivik, Paal Methlie, Anette S B Wolff, Eirik Bratland, Ingrid Nermoen, Kristian Løvås and Eystein S Husebye
Endocrinology and Metabolism 1995 80 1635 – 1640 . ( doi:10.1210/jcem.80.5.7745011 ). 10 Lau IF Soardi FC Lemos-Marini SH Guerra G Jr Baptista MT De Mello MP . H28+C insertion in the CYP21 gene: a novel frameshift mutation in a Brazilian
R Solomon-Zemler, L Basel-Vanagaite, D Steier, S Yakar, E Mel, M Phillip, L Bazak, D Bercovich, H Werner and L de Vries
generations presenting with SGA, microcephaly and hypoglycemia. This mutation affects the splicing of the mRNA transcript, leading to addition of four nucleotides at the end of exon 1. The net result of this frameshift mutation is a truncation of the receptor
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