Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Rett syndrome and genetic drift.

E M Bühler1, N J Malik, M Alkan

  • 1Department of Medical Genetics, Basel University Children's Hospital, Switzerland.

Brain & Development
|June 18, 1999
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Effects of clinical factors on quality of life following curative gastrectomy for gastric cancer.

Nigerian journal of clinical practice·2019
Same author

Effects of dexmedetomidine and thymoquinone on erythrocyte deformability in lower limb ischemia reperfusion injury in streptozotocin-induced diabetic rats.

Bratislavske lekarske listy·2018
Same author

Effects of thoracic epidural or intravenous analgesia on the neutrophil-to-lymphocyte ratio in thoracotomy cases.

Nigerian journal of clinical practice·2018
Same author

Intrinsic charge-mobility in benzothieno[3,2-b][1]benzothiophene (BTBT) organic semiconductors is enhanced with long alkyl side-chains.

Physical chemistry chemical physics : PCCP·2018
Same author

Neutrophil lymphocyte ratio predicts postoperative pain after orthognathic surgery.

Nigerian journal of clinical practice·2017
Same author

Effects of intravenous ibuprofen and lornoxicam on erythrocyte deformability in rats undergoing hind limb ischemia reperfusion injury.

Bratislavske lekarske listy·2017
Same journal

Receptor-specific dopaminergic imbalance and sensory gating in Lesch-Nyhan syndrome.

Brain & development·2026
Same journal

From weather stations to the home environment: Refining seizure prediction in pediatric drug-resistant epilepsy.

Brain & development·2026
Same journal

Pediatric GBS-myelitis overlap syndrome: Severe phenotype, treatment response, and neurological outcomes.

Brain & development·2026
Same journal

Aspartoacylase (ASPA) gene mutations and neuroimaging features in Iranian patients with Canavan disease: a descriptive study.

Brain & development·2026
Same journal

Third nationwide survey of bilirubin encephalopathy in preterm infants in Japan.

Brain & development·2026
Same journal

Urine protein/osmolality and creatinine/osmolality ratios for assessing proteinuria and motor function in children with spinal muscular atrophy.

Brain & development·2026
See all related articles

Rett syndrome (RS) may involve autosomal recessive genes, not just X chromosome genes, particularly in familial cases. This study estimates the recessive mutation frequency at 22.5%.

Area of Science:

  • Genetics
  • Medical Genetics
  • Population Genetics

Background:

  • Rett syndrome (RS) has been traditionally attributed to X chromosome gene mutations.
  • Recent genealogical data suggest potential involvement of autosomal recessive genes, especially in familial RS cases.

Purpose of the Study:

  • To re-evaluate the genetic basis of Rett syndrome.
  • To calculate gene frequencies considering both X-linked and autosomal recessive models.
  • To explain RS variants and carrier existence using a theoretical model.

Main Methods:

  • Application of a theoretical genetic model (previously published by authors).
  • Calculation of gene frequencies using observed data for sporadic and familial RS cases.
  • Inclusion of genetic drift in inbred populations.

Related Experiment Videos

Main Results:

  • An autosomal recessive mutation frequency, or frequent polymorphism, is estimated at 22.5%.
  • The model accounts for 'formes frustes' and suggests the existence of both female and male carriers.
  • The findings challenge the sole X chromosome gene hypothesis for RS.

Conclusions:

  • Autosomal recessive inheritance plays a significant role in Rett syndrome, alongside X-linked factors.
  • The estimated high frequency of the autosomal recessive factor warrants further investigation.
  • The study provides a framework for understanding the complex genetic architecture of Rett syndrome.