Mutations in the @entity8251 gene cause the severe @entity245 called @entity6694 . Preliminary evidence suggests that @entity8251 may be involved in a broader phenotype than classical @entity6694 including preserved speech variants (PSV). Here we report clinical and mutation analysis of 18 PSV @entity1 . Ten of them had a @entity8251 mutation (55%). The clinical features of these @entity1 have been characterized and two subgroups defined. All of them had slow recovery of verbal and praxic abilities, evident @entity146 , and normal head circumference. Six were overweight, often @entity28 , had @entity1513 , coarse face, and mental age of two-to-three years, and were able to speak in sentences; four had normal weight, mental age not beyond one-to-two years, and spoke in single words and two-word phrases. The @entity74 was in stages as in classic @entity6694 . Hand-washing was present in the first years of life but often subsequently disappeared. Significantly, all mutations found in PSV are either missense or late truncating mutations. In particular, we did not find the four early truncating hot spots: @entity69442 , @entity69443 , @entity69444 , @entity38923 . These results suggest that early truncating mutations lead to a poor prognosis (classic Rett), while late truncating and missense mutations lead either to classic Rett or PSV. We hypothesize that a missense or late truncating mutation is necessary but not sufficient to produce a PSV, based on the presence of one (or more) modifier genes whose product may interact in a epistatic manner with @entity8251 protein.

Preserved speech variants of the XXXX : molecular and clinical analysis.

@entity1 :: ('9606', 'Species') :: ['patients', 'girls'] @entity69443 :: ('p|SUB|R|255|X', 'ProteinMutation') :: ['R255X'] @entity28 :: ('MESH:D009765', 'Disease') :: ['obese'] @entity146 :: ('MESH:D001523', 'Disease') :: ['autistic behavior'] @entity69442 :: ('p|SUB|R|168|X', 'ProteinMutation') :: ['R168X'] @entity6694 :: ('MESH:D015518', 'Disease') :: ['Rett syndrome'] @entity1513 :: ('MESH:D007738', 'Disease') :: ['kyphosis'] @entity245 :: ('MESH:D002658', 'Disease') :: ['neurodevelopmental disorder'] @entity8251 :: ('4204', 'Gene') :: ['MECP2', 'MeCP2'] @entity74 :: ('MESH:D030342', 'Disease') :: ['course of the disorder'] @entity69444 :: ('p|SUB|R|270|X', 'ProteinMutation') :: ['R270X'] @entity38923 :: ('p|SUB|R|294|X', 'ProteinMutation') :: ['R294X']
@entity6694 :: (MESH:D015518,Disease) :: ['Rett syndrome']
