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 Concept Videos

Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Meiosis I01:49

Meiosis I

Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...
piRNA - Piwi-interacting RNAs02:57

piRNA - Piwi-interacting RNAs

PIWI-interacting RNAs, or piRNAs, are the most abundant short non-coding RNAs. More than 20,000 genes have been found in humans that code for piRNAs while only 2000 genes have been found for miRNAs. piRNAs can act at the transcriptional and post-transcriptional levels and have a vital role in silencing transposable elements present in germ cells. They are also involved in epigenetic silencing and activation. Previously, they were thought to function only in germ cells but new evidence suggests...
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,...
Karyotyping01:17

Karyotyping

Overview
Mutations01:39

Mutations

Overview

You might also read

Related Articles

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

Sort by
Same author

Brain Charts for the Rhesus Macaque Lifespan.

bioRxiv : the preprint server for biology·2024
Same author

Referral patterns and genetic testing outcomes in a contemporary hereditary renal cancer clinic.

Urologic oncology·2024
Same author

Correction: Bone morphogenetic protein-7 is a MYC target with prosurvival functions in childhood medulloblastoma.

Oncogene·2022
Same author

Epigenetic activation of O-linked β-N-acetylglucosamine transferase overrides the differentiation blockage in acute leukemia.

EBioMedicine·2020
Same author

Biocompatibility and thermodynamic properties of PEGDA and two of its copolymer.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference·2020
Same author

Numerical simulation of the electric field distribution in an electrical stimulation device for scaffolds settled with cartilaginous cells.

Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference·2020
Same journal

Genetic Spectrum of Non-PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort.

Clinical genetics·2026
Same journal

Phenotypic Characterization of Five Children With PACS1-NDD: Longitudinal Insights Into Development, Behavior, and Brain.

Clinical genetics·2026
Same journal

A Second Report of a Missense Variant in AMMECR1 Causing Midface Hypoplasia, Hearing Impairment, Elliptocytosis, and Nephrocalcinosis: Case Report and Literature Review.

Clinical genetics·2026
Same journal

From Pathogenicity to Mechanism: A Variant Interpretation Framework for Monogenic Epilepsy.

Clinical genetics·2026
Same journal

Biallelic Variants in ATP1A4 Are Associated with Oligoasthenoteratozoospermia and Male Infertility.

Clinical genetics·2026
Same journal

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy.

Clinical genetics·2026
See all related articles

Related Experiment Video

Updated: May 8, 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

PIK3R1 mutations in SHORT syndrome.

C Schroeder1, A Riess, M Bonin

  • 1Institute of Medical Genetics and Applied Genomics.

Clinical Genetics
|August 29, 2013
PubMed
Summary
This summary is machine-generated.

SHORT syndrome, a rare genetic disorder, is caused by PIK3R1 gene mutations. Two new cases highlight a recurrent mutation, expanding the known clinical features of this condition.

Keywords:
PIK3R1Rieger anomalySHORT syndromeectopic kidneylipodystrophypulmonary stenosisshort stature

More Related Videos

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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

Published on: August 20, 2019

Related Experiment Videos

Last Updated: May 8, 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

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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

Published on: August 20, 2019

Area of Science:

  • Genetics
  • Rare diseases
  • Molecular biology

Background:

  • SHORT syndrome is a rare autosomal-dominant disorder with diverse clinical manifestations including short stature, joint hyperextensibility, and ophthalmic anomalies.
  • Recent studies identified heterozygous mutations in the PIK3R1 gene as a cause of SHORT syndrome.
  • A specific recurrent missense mutation (c.1945C>T; p.Arg649Trp) was found in a significant proportion of affected families.

Observation:

  • This report details two unrelated patients presenting with typical SHORT syndrome features.
  • Both patients exhibited additional health issues, specifically pulmonary stenosis and ectopic kidney.
  • Genetic analysis confirmed the presence of the c.1945C>T; p.Arg649Trp mutation in the PIK3R1 gene in both individuals, identified as de novo.

Findings:

  • The study provides further evidence linking PIK3R1 mutations to the etiology of SHORT syndrome.
  • The identified mutation (c.1945C>T; p.Arg649Trp) was found to be de novo in the reported patients.
  • The clinical presentation in these patients broadens the spectrum of SHORT syndrome, including previously unassociated conditions.

Implications:

  • These findings reinforce the role of PIK3R1 in SHORT syndrome pathogenesis.
  • The recurrent mutation c.1945C>T; p.Arg649Trp is confirmed as a hotspot mutation, crucial for diagnostic considerations.
  • Expanding the clinical spectrum aids in better diagnosis, management, and genetic counseling for individuals with SHORT syndrome and related disorders.