Growth failure

Gene: RPS6KA3

Green List (high evidence)

Well-established gene-disease association; over 50 unique RPS6KA3
variants (short and large deletions, insertion, nonsense, missense, splice) identified in Coffin-Lowry syndrome individuals.

Disorder is a rare form of X-linked intellectual disability characterised by skeletal malformations, growth failure, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females.

*Milder phenotype in females (mild intellectual disability (80%), short stature (50%), prominent forehead, and coarse facies)

Created: 2 Sep 2021, 1:01 a.m. | Last Modified: 2 Sep 2021, 1:01 a.m.

Panel Version: 0.381

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Coffin-Lowry syndrome MIM# 303600; Intellectual disability; short stature; delayed bone age; hearing deficit; hypotonia; tapering fingers; abnormal facies (hypertelorism, anteverted nares, prominent frontal region)

Publications

• 6879200