Related Experiment Video
Updated: Feb 9, 2026
Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome
Published on: July 31, 2016
[Clinical features and mutational analysis of a case with Sensenbrenner syndrome]
Shilei Jia1, Jun Yang, Tingyan He
1Department of Renal Immunology, Shenzhen Children's Hospital, Shenzhen, Guangdong 518038, China. rogasan@gmail.com.
Objective:
To explore the clinical characteristics of a patient with Sensenbrenner syndrome (also called cranioectodermal dysplasia type 3) caused by mutation of intraflagellar transport (IFT) 43 gene.
Methods:
The clinical data of the patient was retrospectively analyzed. The target genes was the patient were captured and subjected to next generation sequencing. Suspected mutations were verified through Sanger sequencing.
Results:
The patient, a-13 year-and-5-month-old girl, was admitted for anemia and renal dysfunction for 8 months. Clinically, she has featured short stature, short limbs, brachydactylia, tooth agenesis, and retinal dystrophy, high-degree myopia, and chronic renal failure. Gene sequencing showed that she has carried a homozygous c.1A>G (p.M1V) mutation of the IFT43 gene, for which both of her parents were heterozygous carriers.
Conclusion:
c.1A>G (p.M1V) mutation of the C14ORF179/IFT43 gene is the cause for praecox chronic renal failure in children. Genetic testing can facilitate the diagnosis of this rare disorder. For affected families, prenatal diagnosis should be provided.
Related Concept Videos
01:30Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
01:20COPD: Pathogenesis and Clinical Features
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
01:26Esophageal Strictures-II: Clinical Features and Management
Healthcare providers should gather a comprehensive medical history and conduct a physical examination for diagnosis. If esophageal stricture is...
01:25Endocarditis II: Clinical Features of Infective Endocarditis
01:19Pericarditis II: Clinical Features and Diagnostic Tests
01:28Esophageal Varices-II: Clinical Features and Management
In the initial assessment, a thorough review of the patient's medical history is vital to identify risk factors such as liver disease, alcohol...