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

X-linked aqueductal stenosis.

O Sovik, B van der Hagen, A C Loken

    Clinical Genetics
    |June 1, 1977
    PubMed
    Summary

    A rare genetic condition, hydrocephalus with aqueductal stenosis, affected eight males in one family, leading to early death. The study suggests an X-linked gene may cause this severe developmental disorder.

    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

    The HNF1A mutant Ala180Val: Clinical challenges in determining causality of a rare HNF1A variant in familial diabetes.

    Diabetes research and clinical practice·2017
    Same author

    Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry.

    Diabetologia·2013
    Same author

    Fear of hypoglycaemia in mothers and fathers of children with Type 1 diabetes is associated with poor glycaemic control and parental emotional distress: a population-based study.

    Diabetic medicine : a journal of the British Diabetic Association·2010
    Same author

    The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.

    Clinical genetics·2009
    Same author

    Lack of pancreatic body and tail in HNF1B mutation carriers.

    Diabetic medicine : a journal of the British Diabetic Association·2008
    Same author

    Prevalence of HNF1A (MODY3) mutations in a Norwegian population (the HUNT2 Study).

    Diabetic medicine : a journal of the British Diabetic Association·2008

    Area of Science:

    • Neuroscience
    • Medical Genetics
    • Developmental Biology

    Background:

    • Hydrocephalus is a condition characterized by an abnormal buildup of cerebrospinal fluid in the brain's ventricles.
    • Aqueductal stenosis, a narrowing of the cerebral aqueduct, is a common cause of obstructive hydrocephalus.
    • Genetic factors are implicated in some forms of congenital hydrocephalus.

    Observation:

    • A family with eight affected members across one generation presented with hydrocephalus and aqueductal stenosis.
    • Affected infants, predominantly male, experienced severe symptoms and typically died within 10 days of birth.
    • Autopsies of affected twins revealed significant stenosis of the aqueduct of Sylvius and fused lamina quadrigemina.

    Findings:

    • Pathological examination showed no evidence of inflammation or neoplasia, suggesting a non-acquired cause.
    • The exclusive male affectation within the family strongly supports an X-linked inheritance pattern.
    • Familial data and pathological findings indicate a likely developmental origin for the aqueductal stenosis.

    Implications:

    • This case provides strong evidence for an X-linked genetic basis for hydrocephalus with aqueductal stenosis.
    • Understanding the genetic etiology can aid in genetic counseling and potentially inform future therapeutic strategies.
    • Further research into the specific gene and developmental pathways involved is warranted to elucidate the pathogenesis.

    Related Experiment Videos