[Diagnosis of two neonates with galactosemia by using next generation sequencing]
Haiyan Zhang1, Dong Chen, Chen Liu
1Institute of Pediatric Research, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com.
Summary
Next-generation sequencing identified compound heterozygous mutations in the GALT gene, confirming galactosemia in two neonates. This study marks the first domestic use of NGS for diagnosing galactosemia.
Area of Science:
- Medical Genetics
- Molecular Diagnostics
Background:
- Galactosemia is a rare genetic disorder affecting carbohydrate metabolism.
- Early diagnosis and intervention are crucial for managing galactosemia and preventing complications.
Observation:
- Two neonates presented with clinical suspicion of galactosemia.
- Whole exome sequencing was employed to investigate the genetic underpinnings of the suspected cases.
Findings:
- Both neonates were diagnosed with galactosemia due to compound heterozygous mutations in the Galactose-1-phosphate uridyltransferase (GALT) gene.
- One neonate had novel mutations c.564G>C(p.Q188H) and c.116A>T(p.D39V), while the other had mutations c.754C>T(p.Q252X) and c.904+1G>T.
- Genetic analysis confirmed mutations were inherited from both parents.
Implications:
- This study highlights the utility of next-generation sequencing (NGS) in diagnosing galactosemia.
- The findings contribute to understanding the genetic basis of galactosemia and identifying novel mutations.
- This research represents the first domestic report utilizing NGS for galactosemia diagnosis.
Related Concept Videos
03:00Next-generation Sequencing
98.8K
The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
98.8K
01:22Nursing Diagnosis
4.2K
Following assessment, a nursing diagnosis is the next step in the nursing process. It begins after the nurse has collected and recorded the patient data. The purpose of diagnosing is to identify how the client responds to actual or potential health processes, identify factors that bestow or that cause health problems, the etiologies, and identify resources or strengths the individual, group, or community can draw on to prevent or resolve problems.
The nursing diagnosis focuses on evidence-based...
The nursing diagnosis focuses on evidence-based...
4.2K
02:02Cis-regulatory Sequences
11.9K
Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
11.9K
01:26Formulating and Validating Nursing Diagnosis I
4.0K
A nursing diagnosis is written when the nurse recognizes a cluster of essential patient data indicating health problems treated with independent nursing interventions. The standardized terminologies of a nursing diagnosis help nurses identify and treat patients' problems. Every electronic health record that uses nursing diagnosis must employ standard diagnostic terminology. Developing an efficient, individualized care plan begins with accurate nursing diagnoses.
There are thirteen domains...
There are thirteen domains...
4.0K
01:10Documentation of Nursing Diagnosis
1.8K
The nurse documents nursing diagnoses and enters them into the patient record. The identified patient's nursing diagnosis is either written out with a plan of care or entered into the electronic health record.
In some settings, data-driven computerized decision support systems are in place, allowing for more accurate nursing diagnoses. The database within one of these systems includes diagnostic labels defining characteristics, activities, and indicators for nursing. A nurse enters...
In some settings, data-driven computerized decision support systems are in place, allowing for more accurate nursing diagnoses. The database within one of these systems includes diagnostic labels defining characteristics, activities, and indicators for nursing. A nurse enters...
1.8K
01:29Sequences
295
Sequences are fundamental mathematical objects consisting of ordered lists of numbers that follow a specific rule or pattern. Sequences are critical in various mathematical concepts, including calculus, series, and number theory. They can model real-world phenomena such as population growth, financial investments, and physical processes like the diminishing height of a bouncing ball.Each number in a sequence is referred to as a term. Typically, the terms are denoted as a1, a2, a3,…, where...
295