Identification of a novel insertion mutation in GATA3 with HDR syndrome
| Autor: | Takashi Kuwahara, Naoharu Iwai, Koh Ono, Toshifumi Mannami, Keisuke Shioji, Yukari Mino |
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| Rok vydání: | 2005 |
| Předmět: |
Adult
Heterozygote Hypoparathyroidism Physiology Sequence analysis Hearing Loss Sensorineural Molecular Sequence Data GATA3 Transcription Factor Kidney Congenital Abnormalities Exon Physiology (medical) Humans Medicine Amino Acid Sequence Insertion Transcription factor Alleles Genetics Zinc finger Base Sequence business.industry GATA3 Zinc Fingers Exons Syndrome Middle Aged medicine.disease Protein Structure Tertiary DNA-Binding Proteins Codon Nonsense Nephrology Mutation (genetic algorithm) Codon Terminator Trans-Activators Female business |
| Zdroj: | Clinical and Experimental Nephrology. 9:58-61 |
| ISSN: | 1437-7799 1342-1751 |
| DOI: | 10.1007/s10157-004-0327-6 |
| Popis: | Recently, a member of the GATA-binding family of transcription factors was shown to be involved in human hypoparathyroidism, sensorineural deafness, and renal abnormality (HDR) syndrome. We report here a Japanese family in which two of the members are affected with HDR syndrome. Sequence analysis of GATA3 showed a heterozygous novel mutation in this family: an unusual mutation at exon 3 (709insC) resulting in a premature stop at codon 302 with a loss of both of the zinc finger domains. |
| Databáze: | OpenAIRE |
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