Tuberous sclerosis: The incidence of sporadic cases versus familial cases

Fleury, P; Groot, W.P. de; Delleman, J. W.; Verbeeten, B.; Frankenmolen-Witkiewicz, I.M.

doi:10.1016/0303-8467(80)90042-6

Cited by 7 publications

(10 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Variation in expression is found both within and between families. 66 per cent of cases are a result of de novo mutations (Fleury et al, 1980). Gene localization by linkage analyses predicted that TSC was associated with two loci-in about 50 per cent of families on chromosome 9 and in the remainder on chromosome 16 (Povey et al, 1994).…”

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks' gestation

et al. 1999

View full text Add to dashboard Cite

We report the ultrasound detection of cranial abnormalities at 14 weeks' gestation in a fetus subsequently confirmed as having tuberous sclerosis using DNA linkage analysis within the affected family. The presence of asymmetrical ventricular enlargement persisted antenatally. Magnetic resonance imaging at 26 weeks indicated the possibility of poor gyral formation consistent with a neuronal migration disorder. Cardiac rhabdomyomata were not visualized on ultrasound scan until 30 weeks' gestation. Postnatal cranial ultrasound confirmed the significant neuropathology which was manifested by severe developmental delay and intractable fits in the child. The potential benefits of earlier diagnosis of tuberous sclerosis by cranial imaging are discussed, although in this patient the routine booking scan resulted in a path of prenatal diagnosis being undertaken which had originally been declined. A mechanism is proposed to explain the variable expression of tuberous sclerosis within this family based on altered TSC2 activity affecting neuronal migration. Copyright © 1999 John Wiley & Sons, Ltd.

show abstract

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks' gestation

et al. 1999

View full text Add to dashboard Cite

show abstract

“…These well conducted studies estimate that 56-69% of cases are sporadic and the remaining cases are familial [10][11][12][13][14] inherited in an autosomal dominant pattern. Criteria to determine diagnosis have been published.…”

Section: How To Investigate Symptomatic Patients To Establish the Diamentioning

confidence: 99%

Guidelines and care pathways for genetic diseases: the Scottish collaborative project on tuberous sclerosis

et al. 1998

View full text Add to dashboard Cite

In Scotland a national audit project has been undertaken to devise evidencebased guidelines for the clinical management of patients with tuberous sclerosis (TS), a dominantly inherited multisystem disorder. In order to facilitate the audit and use of these guidelines a 'Care Pathway' was devised to form the patient records. We describe the process of guideline development for TS and our TS Care Pathway.

show abstract

“…Subsequent family studies using skin, eye, and cranial CT scan showed nearly a half to be familial. 18 More recently, Cassidy et al, 9 using a more comprehensive, non-invasive screening protocol to look at apparently unaffected parents, showed the final proportion of familial cases to be just greater than 30%. In order to maximise the chance of detecting familial cases in apparently sporadically affected cases, we used a fully comprehensive, non-invasive protocol to screen parents and sibs of patients with TS so as to be able to give better advice to these relatives and to try to determine, if possible, which parts of the screening protocol are most effective.…”

mentioning

confidence: 99%

Diagnostic and counselling difficulties using a fully comprehensive screening protocol for families at risk for tuberous sclerosis.

al-Gazali

Arthur

Lamb

et al. 1989

Journal of Medical Genetics

View full text Add to dashboard Cite

In seven of the apparently sporadically affected families, three mothers had echocardiographical findings consistent with one or more rhabdomyoma. In another, the mother's renal ultrasound showed evidence of single cysts in both kidneys. In a fifth family, the father had suggestive but not diagnostic features of TS on the cranial CT scan and skeletal survey. In the sixth family, the mother was found to have atypical calcification on CT scan. In a seventh instance a sib from a two generation family had echocardiographical evidence of a rhabdomyoma.Even though the proband in three of the sporadically affected families presented with fits, developmental delay, and depigmented patches, and therefore did not strictly fulfil the diagnostic criteria for TS, two mothers were found to have evidence of rhabdomyomata on echocardiography and the brother of the third had typical depigmented patches.Although the presently accepted diagnostic criteria for TS may not allow one to make a definitive diagnosis of TS in these relatives, we recommend that an extensive screening protocol be used to examine first degree relatives and that caution be used in counselling apparently unaffected members of families at risk for TS.

show abstract

Tuberous sclerosis: The incidence of sporadic cases versus familial cases

Cited by 7 publications

References 0 publications

Prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks' gestation

Prenatal diagnosis of tuberous sclerosis with intracerebral signs at 14 weeks' gestation

Guidelines and care pathways for genetic diseases: the Scottish collaborative project on tuberous sclerosis

Diagnostic and counselling difficulties using a fully comprehensive screening protocol for families at risk for tuberous sclerosis.

Contact Info

Product

Resources

About