A new UBA1 gene mutation linked to infantile respiratory distress syndrome
Author Information
Author(s): Miyata Masafumi, Kojima Arisa, Kawai Yuri, Uchida Hidetoshi, Boda Hiroko, Ishihara Naoko, Inagaki Hidehito, Yoshikawa Tetsushi, Kurahashi Hiroki
Primary Institution: Fujita Health University School of Medicine
Hypothesis
Is there a novel mutation in the UBA1 gene associated with infantile respiratory distress syndrome?
Conclusion
The study identified a de novo mutation in the UBA1 gene that may be linked to the patient's respiratory and neuromuscular symptoms.
Supporting Evidence
- The patient was diagnosed with respiratory distress syndrome and treated with surfactant.
- A de novo hemizygous mutation in the UBA1 gene was identified.
- The mutation was located in a known hotspot for related diseases.
Takeaway
A baby with breathing problems had a new mutation in a gene that might explain his health issues.
Methodology
Targeted exome sequencing was performed to identify mutations in disease-associated genes.
Limitations
The study is based on a single case report, limiting the generalizability of the findings.
Participant Demographics
{"gender":"male","birth_weight":2890,"birth_height":47,"birth_head_circumference":34,"parents_age":{"mother":30,"father":26},"sibling_health":"sister had B-cell precursor lymphoblastic leukemia"}
Digital Object Identifier (DOI)
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