Patient reports: Two novel frameshift mutations in the SOX9 gene in two patients with campomelic dysplasia who showed long-term survival
| Autor: | Tokuo Mukai, Tokitsugi Hayashi, Eiki Nakamura, Toshio Okamoto, Ken Nagaya, Kenji Fujieda |
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| Rok vydání: | 2011 |
| Předmět: |
Male
Candidate gene business.industry Endocrinology Diabetes and Metabolism Campomelic Dysplasia SOX9 Transcription Factor SOX9 medicine.disease Congenital skeletal disorder Molecular biology Frameshift mutation Campomelic dysplasia Endocrinology Testis determining factor Child Preschool Pediatrics Perinatology and Child Health Medicine Humans Female Survivors Allele business Frameshift Mutation Gene |
| Zdroj: | Journal of pediatric endocrinologymetabolism : JPEM. 23(11) |
| ISSN: | 0334-018X |
| Popis: | Campomelic dysplasia (CD) is a rare and usually fatal congenital skeletal disorder with respiratory failure. The SOX9 gene has been cloned as a candidate gene for CD. Here, we report the cases of 2 Japanese patients with CD who have survived for over 5 years. Molecular investigations revealed novel frameshift mutations in SOX9 in these patients; a single G insertion in 1 allele at nucleotide 261 (261-262insG) and a single C insertion in 1 allele at nucleotide 888 (888-889insC). The predicted protein of 261-262insG may lack more than 80% composition of the normal SOX9 protein, including the SRY high mobility group (HMG) domain and the transactivation (TA) domain; the predicted protein of 888-889insC may not contain the normal TA domain. Although it has been reported that most patients with CD die during the neonatal period, our patients have survived for a long time, despite putative severely impaired SOX9 proteins. |
| Databáze: | OpenAIRE |
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