@entity16797 ( @entity16797 ) is an @entity1112 associated with @entity1032 , distinctive facies and hands, @entity2421 , and @entity853 . The syndrome results from mutations in the @entity45643 gene located in Xp22.2. Although the syndrome has been elucidated clinically, few, if any, studies have focused on the @entity73 of the affected males or carrier females. The subjects of the present study were selected from two African-American families who have the same missense mutation ( @entity69522 ) in @entity45643 . The subjects included six affected males, seven carrier females, three normal males and three non-carrier (normal) females. Normal family members served as contrast/comparison cohorts to control for socio-economic, sociocultural and genetic variables which would impinge on intellectual abilities. Analysis of cognitive function, as measured by the Stanford-Binet Intelligence Scale, 4th @entity14335 , demonstrated a distinct hierarchy of abilities from normal to carrier to affected @entity1 . The mean composite IQs of the cohorts were 90.8, 65.0 and 43.2 for normal, carrier and affected individuals, respectively. These findings lend support to the clinical concept of negative intellectual effects in carriers of certain @entity18479 conditions. X-inactivation studies showed that carrier females had mild to significant skewing. Normal females in the family did not demonstrate skewing. The correlation coefficient between IQ and X-inactivation status among carriers was not significant.

Cognitive function in XXXX .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity1032 :: ('MESH:D008607', 'Disease') :: ['mental retardation'] @entity16797 :: ('MESH:D038921', 'Disease') :: ['CLS', 'Coffin-Lowry syndrome'] @entity853 :: ('MESH:D009139', 'Disease') :: ['skeletal abnormalities'] @entity73 :: ('MESH:D003072', 'Disease') :: ['cognitive deficits'] @entity1112 :: ('MESH:D040181', 'Disease') :: ['X-linked disorder'] @entity69522 :: ('c|SUB|C|340|T', 'DNAMutation') :: ['C340T'] @entity18479 :: ('MESH:D038901', 'Disease') :: ['X-linked mental retardation'] @entity2421 :: ('MESH:D009123', 'Disease') :: ['hypotonia'] @entity45643 :: ('6197', 'Gene') :: ['RSK2'] @entity14335 :: ('6036', 'Gene') :: ['edn']
@entity16797 :: (MESH:D038921,Disease) :: ['Coffin-Lowry syndrome']
