Family data in Rett syndrome: association with other genetic disorders.
BACKGROUND
Rett syndrome is a neurological disorder, almost exclusively affecting girls.


METHODS
Between 1993 and 1995 pedigree data were obtained from families of girls registered with the Australian Rett syndrome database.


RESULTS
Although 21 individual disorders were reported to be present in family members of affected girls, there was no apparent clustering of the same disorder in different families. However it was certain that a geneticist had been involved in only 10.9% of cases.


CONCLUSIONS
Mutations in the MECP2 gene have now been reported in a proportion of sporadic cases. Thus, it will be important to examine this phenotype-genotype correlation in the Australian cohort. Where a mutation is found, prenatal diagnosis in a subsequent pregnancy will be a possibility. Using the Australian population database and in conjunction with the clinical genetic services in each state it is planned to contact families with an affected girl to offer testing and counselling.
TVW Telethon Institute for Child Health Research, West Perth, Australia. hleonard@cyllene.uwa.edu.au
H
H
Leonard
S
S
Fyfe
D
D
Dye
A
A
Hockey
J
J
Christodoulou
D002648:Child; D002675:Child, Preschool; D005260:Female; D015870:Gene Expression / Q000235:genetics; D005817:Genetic Counseling; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D011247:Pregnancy; D015518:Rett Syndrome / Q000235:genetics*