PubMed ID | Description |
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22197486 | Lederer et al. (2012) report de novo microdeletions in two females with Kabuki syndrome which include all or a portion of KDM6A. They also report a de novo deletion of exons 5-9 in a male patient with Kabuki syndrome. Authors discuss implications of KDM6A partially escaping X-inactivation and a possible partial compensation from the paralog on the Y chromosome. Both females had skewed X-inactivation with the deleted copy preferentially inactivated. |
23076834 | Miyake et al (2013) report mutations in three patients with Kabuki syndrome. Two male patients had nonsense mutations which would be predicted to cause nonsense-mediated decay based on location. Parental specimens were not available for testing but parents are reportedly healthy. One female patient had a de novo 3-bp deletion of a conserved amino residue in the Jumonji C domain. |
To date, six individuals (males and females) with Kabuki syndrome have been reported with mutations in KDM6A, including two nonsense mutations, one multiexonic intragenic deletion, two larger deletions containing KDM6A, and one 3-bp deletion. See GeneReviews.
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.