In this report, we present three families in which we identified asymptomatic carriers of a homozygous absence of the SMN1 gene. In the first family, the bialleleic deletion was found in three of four siblings: two affected brothers (SMA type 3a and 3b) and a 25-years-old asymptomatic sister. All of them have four SMN2 copies. In the second family, four of six siblings are affected (three suffer from SMA2 and one from SMA3a), each with three SMN2 copies. The clinically asymptomatic 47-year-old father has the biallelic deletion and four SMN2 copies. In the third family, the biallelic SMN1 absence was found in a girl affected with SMA1 and in her healthy 53-years-old father who had five SMN2 copies. Our findings as well as those of other authors show that an increased number of SMN2 copies in healthy carriers of the biallelic SMN1 deletion is an important SMA phenotype modifier, but probably not the only one.

Maria Jędrzejowska

Janina Borkowska

Janusz Zimowski

Anna Kostera-Pruszczyk

Michał Milewski

Marta Jurek

Danuta Sielska

Ewa Kostyk

Walenty Nyka

Jacek Zaremba

Irena Hausmanowa-Petrusewicz

European Journal of Human Genetics

《欧洲人类遗传学杂志》是欧洲人类遗传学会的官方期刊，在快速发展的人类遗传学和基因组学领域发表高质量的原创研究论文、简短报告和评论。它涵盖分子、临床和细胞遗传学，高级生物医学研究和临床医生之间的接口，并在遗传学界弥合各种设施、资源和观点。关键领域包括：-单基因和多因素疾病-发育和畸形-遗传性癌症-医学基因组学-基因作图和功能研究-基因型-表型相关性-遗传变异和基因组多样性-统计和计算遗传学-生物信息学-诊断学进展-治疗和预防-动物模型-遗传服务-社区遗传学

The European Journal of Human Genetics is the official journal of the European Society of Human Genetics, dedicated to publishing high-quality original research papers, brief reports, and reviews in the rapidly evolving fields of human genetics and genomics. The journal covers molecular, clinical, and cytogenetics, as well as the interface between advanced biomedical research and clinical practice, aiming to bridge various facilities, resources, and perspectives within the genetics community. Key areas of focus include: single-gene and multifactorial diseases, development and malformations, hereditary cancers, medical genomics, gene mapping and functional studies, genotype-phenotype correlations, genetic variation and genomic diversity, statistical and computational genetics, bioinformatics, advancements in diagnostics, treatment and prevention, animal models, genetic services, and community genetics.

《欧洲人类遗传学杂志》是欧洲人类遗传学会的官方期刊，致力于在快速发展的遗传学和基因组学领域发表高质量的原创研究论文、简短报告和评论。期刊涵盖了分子、临床和细胞遗传学，以及高级生物医学研究与临床实践之间的交叉领域，旨在弥合遗传学界的各种设施、资源和观点。关键研究领域包括：单基因和多因素疾病、发育与畸形、遗传性癌症、医学基因组学、基因作图与功能研究、基因型与表型相关性、遗传变异与基因组多样性、统计与计算遗传学、生物信息学、诊断进展、治疗与预防、动物模型、遗传服务和社区遗传学。

Unaffected patients with a homozygous absence of the SMN1 gene

It is shown that an increased number of SMN2 copies in healthy carriers of the biallelic SMN1 deletion is an important SMA phenotype modifier, but probably not the only one.

Category	Quartile
生物学	2
生物学, 生化与分子生物学	2
生物学, 遗传学	2

Unaffected patients with a homozygous absence of the SMN1 gene

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Category	Quartile
GENETICS & HEREDITY	2