Spinal muscular atrophy (SMA), the most common autosomal recessive cause of infant death, is typically diagnosed by determination ofSMN1copy number. Approximately 3–5% of patients withSMAretain at least one copy of theSMN1gene carrying pathogenic insertions, deletions, or point mutations. We report a patient withSMAwho is homozygous for two mutations carriedin cis: an 8 bp duplication (c.48_55dupGGATTCCG; p.Val19fs*24) and a point mutation (c.662C>T; p.Pro221Leu). The consanguineous parents carry the same two mutations within oneSMN1gene copy. We demonstrate that a more accurate diagnosis of the disease is obtained through a novel diagnostic assay and development of a capillary electrophoresis method to determine the copy number of their mutant alleles. This illustrates the complexity ofSMNmutations and suggests additional testing (gene sequencing) may be appropriate when based on family lines.

Susan M. Kirwin

Kathy M. B. Vinette

Iris L. Gonzalez

Hind Al Abdulwahed

Nouriya Al‐Sannaa

Vicky L. Funanage

Molecular Genetics &amp; Genomic Medicine

MOLECULAR GENETICS & GENOMIC MEDICINE 是一本同行评审期刊，旨在快速传播与人类、分子和医学遗传学动态发展领域相关的高质量研究。该杂志发表原创研究文章，涵盖基因组变异、遗传性疾病和出生缺陷的表型、分子、生物学和基因组方面的发现。分子遗传学和基因组医学的广泛出版范围包括从诊断到治疗的罕见和常见疾病。适当文章的示例包括新疾病基因的报告、遗传变异的功能研究、深入的基因型-表型研究、遗传性疾病的基因组分析、分子诊断方法、医学生物信息学、伦理、法律和社会影响 (ELSI)，以及临床诊断方法。 MOLECULAR GENETICS & GENOMIC MEDICINE 为罕见和常见疾病的下一代测序研究提供了一个科学基地，这将使科学界可以轻松快速地访问这一迷人领域的研究。这将作为将下一代测序研究转化为个性化诊断和治疗的基础，用于日常医疗保健。分子遗传学和基因组医学发表原创研究文章、评论和研究方法论文，以及受邀的社论和评论.原始研究论文必须报告进行良好的研究，并提供数据支持的结论。

Molecular Genetics & Genomic Medicine is a peer-reviewed journal aimed at the rapid dissemination of high-quality research related to human, molecular, and medical genetics. The journal publishes original research articles covering discoveries in the phenotypic, molecular, and genomic aspects of genomic variation, hereditary diseases, and birth defects. Its broad scope includes both rare and common diseases, from diagnosis to treatment. Examples of suitable articles include reports of new disease genes, functional studies of genetic variations, in-depth genotype-phenotype studies, genomic analyses of hereditary diseases, molecular diagnostic methods, medical bioinformatics, ethical, legal, and social implications (ELSI), and clinical diagnostic approaches. Molecular Genetics & Genomic Medicine provides a scientific foundation for next-generation sequencing research on rare and common diseases, enabling the scientific community to easily and quickly access research in this fascinating field. This serves as the basis for translating next-generation sequencing research into personalized diagnostics and treatments for everyday healthcare. The journal publishes original research articles, reviews, and methodological papers, as well as invited editorials and commentaries. Original research papers must report well-designed studies and provide data-supported conclusions.

《Molecular Genetics & Genomic Medicine》是一本经过同行评审的期刊，旨在快速传播与人类、分子和医学遗传学领域相关的高质量研究。该期刊发表原创研究文章，涵盖基因组变异、遗传性疾病和出生缺陷的表型、分子生物学和基因组方面的发现。其出版范围广泛，包括从诊断到治疗的罕见和常见疾病。适合发表的文章示例包括新疾病基因的报告、遗传变异的功能研究、深入的基因型-表型研究、遗传性疾病的基因组分析、分子诊断方法、医学生物信息学、伦理、法律和社会影响（ELSI），以及临床诊断方法。《Molecular Genetics & Genomic Medicine》为罕见和常见疾病的下一代测序研究提供了科学基础，使科学界能够轻松快速地访问这一迷人领域的研究。这将作为将下一代测序研究转化为个性化诊断和治疗的基础，用于日常医疗保健。期刊发表原创研究文章、评论和研究方法论文，以及受邀的社论和评论。原始研究论文必须报告经过良好设计的研究，并提供数据支持的结论。

Category	Quartile
医学	4
医学, 遗传学	4

A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA

ivySCI AI Smartly Parses PDF, Answers Researchers' Questions, and Helps You Understand Papers in Seconds

Journal Info