TABLE II.
Comparison of Phenotypes in Mice and Humans With Deletions of the WS Region
| WS common deletiona | WS deletion mouseb |
Human deletion of distal regionc (CLDN3–GTF2I) |
Mouse deletion of proximal regionb,d (Gtf2i–Limk1) |
|---|---|---|---|
| Cognition | |||
| Developmental delay/learning impairment | YES | YES | — |
| Weakness in spatial skills | n.d. | YESe | n.d. |
| Relative strength in expressive language | n.d. | YESe | n.d. |
| Brain morphology | |||
| Reduced brain volume | YES | n.d. | YES |
| Increased neuronal density | YES | n.d. | YES |
| Behavior | |||
| Excessively social | YES | YES | YES |
| Attention deficit hyperactivity disorder | — | YESe | — |
| Hypersensitivity to sound | — | YES | YES |
| Anxiety | YES | YESe | YES |
| Craniofacial | |||
| Broad forehead | — | YES | — |
| Bitemporal narrowing | — | YES | — |
| Periorbital fullness | — | YES | — |
| Stellate iris | n.d. | YES | n.d. |
| Short cranial base | YES | n.d. | — |
| Small, widely spaced teeth | n.d. | n.d. | n.d. |
| Other | |||
| Low birth weight | n.d. | YES | n.d. |
| Growth deficiency | Males | YES | Males (mild) |
| Impaired glucose tolerance | n.d. | n.d. | n.d. |
| Reduced visual acuity | n.d. | n.d. | n.d. |
| Hypercalcemia | n.d. | — | n.d. |
| Cardiovascular abnormalities | YES | YES | — |
| Motor co-ordination problem | YES | YES | Mild |
WS, Williams syndrome; n.d., not determined.
c
Three cases reported [Botta et al., 1999; Heller et al., 2003].
d
WS proximal region in mouse is equivalent to WS distal region in human.
e
In a single case where the individual was old enough to be evaluated.