Related Experiment Video
Updated: Feb 17, 2026
05:51
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
26.5K
Wiskott-Aldrich syndrome: Two case reports with a novel mutation
Karaman Kamuran1, Mecnun Çetin2, Hadi Geylan2
1a Division of Pediatric Hematology Oncology, Faculty of Medicine, Yüzüncü Yıl University , Van , Turkey.
Pediatric Hematology and Oncology
|December 5, 2017
Summary
Wiskott-Aldrich syndrome (WAS) is an X-linked disorder. This report details two new mutations in the WAS gene, expanding our understanding of this complex genetic condition.
Area of Science:
- Genetics
- Immunology
- Pediatrics
Background:
- Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by eczema, recurrent infections, and thrombocytopenia.
- WAS presents with microthrombocytopenia, increased risk of autoimmunity, and lymphoid neoplasia.
Observation:
- This case report describes two male patients diagnosed with WAS due to a novel genetic mutation.
- Both patients, who were first-degree relatives, presented with thrombocytopenia and low platelet volume.
Findings:
- A new hemizygous mutation in the WAS gene (NM_000377.2 p.M393lfs*102 (c.1178dupT)) was identified in both patients.
- This mutation is located within the Polyproline (PPP) domain of the WAS protein, likely affecting its function.
Implications:
- The identification of this new mutation contributes to the growing list of genetic variations causing WAS.
- Understanding these mutations is crucial for diagnosing and managing the complex clinical manifestations of WAS.
More Related Videos
Related Concept Videos
02:23Abnormal Proliferation
5.3K
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
5.3K
02:18Alternative RNA Splicing
25.3K
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...
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...
25.3K
01:05Single Nucleotide Polymorphisms-SNPs
18.6K
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
18.6K
01:33Pleiotropy
43.4K
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,...
43.4K
01:12Loss of Tumor Suppressor Gene Functions
6.1K
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.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
6.1K