ClinGen Dosage Sensitivity Curation Page

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FTSJ1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000023.10) (NC_000023.11)
Evidence for haploinsufficiency phenotype
PubMed ID Description
15162322 Freude et al. (2004) screened 244 unrelated individuals with putative XLID and identify mutations in FTSJ1 in 3 of these individuals. The mutations identified were a single-nucleotide substitution resulting in a splice defect and the absence of exon 9, a nonsense mutation, and a splice-site mutation.
15342698 Ramser et al. (2004) sequence an 11.3 Mb linkage interval in a large Belgian family with non syndromic XLID and identify a splice acceptor site (IVS3-2A>G) in all affected individuals and carrier females. The mutation was absence in all unaffected male family members. The mutation results in the skipping of exon 4 and introduces a premature stop codon in exon 5.
18081026 Takano et al. (2008) screen 73 unrelated Japanese males with ID and identify a splice site mutation of FTSJ1 in one affected individual and his unaffected mother. The mutation results in the failure to remove intron 8 leading to a premature stop codon in exon 9.

Haploinsufficiency phenotype comments:

Mutations of FTSJ1 are reported to result in non-syndromic forms of X-linked intellectual disability.

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.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

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.