Xp11.23 region (includes MAOA and MAOB) |
- 3
Haplo
Score - 0
Triplo
Score
Dosage Sensitivity Summary (Region)
Haploinsufficiency (HI) Score Details
-
PUBMED:
22365943
O'Leary et al. (2012) report a de novo deletion involving only the MAOA and MAOB genes in a male infant with developmental delay, episodic hypotonia, dysmorphic features, and stereotypical hand movements.
-
PUBMED:
20485326
Whibley et al. (2010) report a maternally inherited 240 kb deletion encompassing exons 2-15 of MAOA and all of MAOB in two brothers with intellectual disability, episodic hypotonia, and stereotypical hand movements.
-
PUBMED:
23414621
Saito et al 2014 report two male siblings with a de novo 800 kb deletion involving only the MAOA and MAOB genes. The siblings had severe developmental delays, dysmorphic features, stereotypical hand movements, and episodes of “sudden muscle tone loss” (episodic hypotonia, as described in Whibley et al 2010) with normal EEG findings.
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 (TS) Score Details
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.