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Whole Exome Sequencing Identified the Causative Mutation in a 4-Year-Old Female with Mulibrey Nanism: A Case Report.

التفاصيل البيبلوغرافية
العنوان: Whole Exome Sequencing Identified the Causative Mutation in a 4-Year-Old Female with Mulibrey Nanism: A Case Report.
المؤلفون: Zeinaloo AA; Department of Pediatric Cardiology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Mirzaei Ilali H; Department of Pediatric Cardiology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Aghaei Moghadam E; Department of Pediatric Cardiology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Khorram Khorshid HR; Personalized Medicine and Genometabolomics Research Center, Hope Generation Foundation, Tehran, Iran., Esmaeilzadeh E; Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran.
المصدر: Iranian journal of public health [Iran J Public Health] 2022 Dec; Vol. 51 (12), pp. 2826-2830.
نوع المنشور: Case Reports
اللغة: English
بيانات الدورية: Publisher: Anjuman-i Bihdāsht-i Īrān Country of Publication: Iran NLM ID: 7505531 Publication Model: Print Cited Medium: Internet ISSN: 2251-6093 (Electronic) Linking ISSN: 22516085 NLM ISO Abbreviation: Iran J Public Health Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Tihrān, Anjuman-i Bihdāsht-i Īrān
مستخلص: Mulibrey Nanism is a rare multisystem disorder inherited in an autosomal recessive manner caused by mutations in the TRIM37 gene. Most of the reported cases are from Finland, but this condition has rarely occurred in other countries. Although the clinical diagnosis of Mulibrey nanism is a challenge during the first months of life, the disease can be suspected clinically due to the distinctive features of the patients. A 4-year-old female with pneumonia, cardiomyopathy, growth retardation, peripheral edema, and characteristic craniofacial features was referred to Tehran Hope Generation Foundation Genetic diagnosis Center, in October 2021. Genomic DNA was isolated from peripheral blood samples of the patient and her parents and Whole exome sequencing was performed for the patient. Whole exome sequencing revealed a homozygous G>A splice site variant ( TRIM37 ; c.370-1G>A). Sanger sequencing confirmed the segregation of the variant with phenotype in this family. Whole exome sequencing can be helpful in the diagnosis of the patients suspecting to Mulibrey nanism and lacking sufficient clinical presentation according to the diagnostic algorithm.
Competing Interests: Conflict of interest The authors declare that there is no conflict of interest.
(Copyright © 2022 Zeinaloo et al. Published by Tehran University of Medical Sciences.)
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فهرسة مساهمة: Keywords: Mulibrey nanism; Pericardial constriction; TRIM37 protein; Whole exome sequencing
تواريخ الأحداث: Date Created: 20230206 Latest Revision: 20230207
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC9874190
DOI: 10.18502/ijph.v51i12.11474
PMID: 36742244
قاعدة البيانات: MEDLINE
الوصف
تدمد:2251-6093
DOI:10.18502/ijph.v51i12.11474