Scholarlink

Background <p>3-M syndrome is an autosomal recessive disease characterized by short stature, facial dysmorphism and skeletal anomalies. To date, biallelic pathogenic <i>CUL7</i> variants are responsible for the majority of cases, but biallelic deleterious changes in <i>OBSL1</i> and <i>CCDC8</i> can also establish the diagnosis.</p> Cases presentation <p>We report two unrelated newborns showing clinical signs compatible with 3-M syndrome and we describe the evolution of the phenotype of the first patient over time. Molecular analysis identified two compound heterozygous <i>CUL7</i> variants in the first individual and a homozygous <i>CUL7</i> variant in the second one.</p> Conclusions <p>We reviewed the literature highlighting the clinical differences between patients with variants in <i>CUL7</i>,<i> OBSL1</i> and <i>CCDC8.</i> Our paper highlights how the clinical diagnosis of 3-M is easier in the first months of life, while in older children the phenotype becomes increasingly nuanced. It also underlines the clinical relevance of Next Generation Sequencing and functional studies, which may be necessary to confirm the pathogenicity of some variants, becoming an essential part of the multidisciplinary management of patients.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

3-M syndrome: evolution of the phenotype over time

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年12月23日

查看全文
  • Isabelle Bacchi,
  • Sara Vandelli,
  • Emanuele Coccia,
  • Lucrezia Giannini,
  • Roberta Zuntini,
  • Rachele Teneggi,
  • Stefano Giuseppe Caraffi,
  • Maria Chiara Baroni,
  • Gianluca Contrò,
  • Adelaide Peruzzi,
  • Irene Ambrosetti,
  • Marzia Pollazzon,
  • Chiara Sartori,
  • Ekkehart Lausch,
  • Uta Matysiak,
  • Lucia Gambini,
  • Giancarlo Gargano,
  • Valeria Orlando,
  • Antonio Novelli,
  • Lorenzo Iughetti,
  • Sheila Unger,
  • Andrea Superti-Furga,
  • Livia Garavelli

摘要

Background

3-M syndrome is an autosomal recessive disease characterized by short stature, facial dysmorphism and skeletal anomalies. To date, biallelic pathogenic CUL7 variants are responsible for the majority of cases, but biallelic deleterious changes in OBSL1 and CCDC8 can also establish the diagnosis.

Cases presentation

We report two unrelated newborns showing clinical signs compatible with 3-M syndrome and we describe the evolution of the phenotype of the first patient over time. Molecular analysis identified two compound heterozygous CUL7 variants in the first individual and a homozygous CUL7 variant in the second one.

Conclusions

We reviewed the literature highlighting the clinical differences between patients with variants in CUL7, OBSL1 and CCDC8. Our paper highlights how the clinical diagnosis of 3-M is easier in the first months of life, while in older children the phenotype becomes increasingly nuanced. It also underlines the clinical relevance of Next Generation Sequencing and functional studies, which may be necessary to confirm the pathogenicity of some variants, becoming an essential part of the multidisciplinary management of patients.