Related Experiment Video

Updated: Apr 21, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

7.9K

Large homozygous RAB3GAP1 gene microdeletion causes Warburg micro syndrome 1

Sylvie Picker-Minh, Andreas Busche, Britta Hartmann

    Orphanet Journal of Rare Diseases
    |October 22, 2014
    PubMed

    Insights

    Warburg micro syndrome (WARBM) is a rare genetic disorder. This study details the largest RAB3GAP1 gene deletion found in a WARBM1 patient, confirming loss of function as the cause and identifying osteopenia as a key feature.

    Area of Science:

    • Genetics
    • Molecular Biology
    • Pediatrics

    Background:

    • Warburg micro syndrome (WARBM) is a rare, genetically heterogeneous disorder.
    • It presents with microcephaly, intellectual disability, and anomalies affecting the brain, eyes, and endocrine system.
    • WARBM subtypes (WARBM1-4) are linked to mutations in specific genes, including RAB3GAP1 for WARBM1.

    More Related Videos

    Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

    Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

    Published on: April 4, 2018

    36.1K
    In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila06:41

    In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

    Published on: August 20, 2019

    12.4K

    Related Concept Videos

    The Retinoblastoma Gene01:20

    The Retinoblastoma Gene

    Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
    The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
    3.7K
    The Retinoblastoma Gene01:20

    The Retinoblastoma Gene

    2.1K
    Rab Proteins01:14

    Rab Proteins

    Rab proteins constitute the largest family of monomeric GTPases, of which 70 members are present in humans. Rab proteins and their effectors regulate consecutive stages of vesicle transport such as vesicle transport, docking, and fusion to the correct recipient membrane.
    Rab proteins switch between a cytosolic, GDP-bound inactive state and a membrane-anchored, GTP-bound active state. By themselves, Rabs show slow rates of GDP/GTP exchange and GTP hydrolysis. Thus, Rab proteins are considered...
    4.0K
    The Ras Gene02:38

    The Ras Gene

    The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
    Ras is a...
    5.7K
    Rab Cascades01:25

    Rab Cascades

    Rab GTPases act in a regulated cascade during membrane fusion, helping the lipid bilayers mix. The Rab family of proteins are active when bound to GTP, and inactive when bound to GDP. Hence, they act as guanine nucleotide-dependent molecular switches. Rab-GTP recognizes and binds to long or short-range tethering proteins to capture the target vesicle. These tethers coordinate with SNAREs on the vesicle and the target membrane to assemble the trans SNARE complex that locks the mixing bilayers.
    2.8K
    Pleiotropy01:33

    Pleiotropy

    Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
    31.0K