PubMed ID | Description |
---|---|
16941480 | King et al (2006) sequenced the COL4A5 gene in 25 unrelated patients with clear Alport syndrome and identified 21 mutations including 4 exon level deletions (del exons 2-37; del exons 31-36; del exons 35-36; del exons 46-51), 3 frameshifts (c.2510delG, c.2_3delTG, c.2846delC), 2 canonical splice site mutations (c.1780-1G>A, c.2244+2T>C). Therefore, a total of 9 LOF variants identified in 9 patients with Alport syndrome. |
10752524 | Jais et al (2000) 401 male patients with Alport syndrome in 195 families with COL4A5 mutation were reported. Among those, 37 frameshift mutations, 14 nonsense mutations were identified. |
30577881 | Zhang et al (2018) All 87 patients with Alport syndrome were tested for COL4A5/6 genotype, where 60 different COL4A5 pathogenic variants were identified in 63 patients, including 10 frameshifts, 5 nonsense (p.Arg373*, p.Lys1284*; p.Arg1680*, p.Ser36*, p.G1360*). |
About 85% of Alport syndrome is caused by mutations in the collagen gene, COL4A5. The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.