Gene mutation analysis of a collodion baby
OBJECTIVE: To determine the mutations pattern of the genes of a collodion baby
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 47(2009), 9 vom: 21. Sept., Seite 654-7 |
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| 1. Verfasser: | |
| Weitere Verfasser: | , , , , , , |
| Format: | Aufsatz |
| Sprache: | Chinese |
| Veröffentlicht: |
2009
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Schlagworte: | Case Reports English Abstract Journal Article Research Support, Non-U.S. Gov't |
| Zusammenfassung: | OBJECTIVE: To determine the mutations pattern of the genes of a collodion baby METHODS: Collodion baby is a genetic heterogeneous disease caused by mutations of several genes. Since the most common mutations were observed in TGM1 gene, this gene was chosen for mutation screening. The screening was carried out by PCR and direct sequencing. The allele specific primers were designed for a missense mutation and allele-specific (AS) PCR was carried out in 50 normal individuals for population study RESULTS: Three novel alterations were detected in TGM1 gene of the proband, a missense mutation c.463C > T (p.Arg155Trp) in exon 3, a nonsense mutation c.578G > A (p.Trp193X) in exon 4, and a single nucleotide deletion (c.694delG) also in exon 4 of TGM1 gene. This infant's father was heterozygote of c.694delG mutation, while his mother carried the two mutations (c.463C > T and c.578G > A) on the same chromosome. The missense mutation was not detected in his father and in any of the control individuals by AS-PCR CONCLUSION: Three novel mutations were identified in TGM1 gene in a Chinese collodion baby. A double mutation (c.463C > T and c.578G > A) located on the maternal allele while the c.694delG deletion on the paternal allele |
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| Beschreibung: | Date Completed 11.01.2011 Date Revised 07.06.2016 published: Print Citation Status MEDLINE |
| ISSN: | 0578-1310 |