Scholarlink

<p>Siddiqi syndrome is a rare autosomal recessive deafness-dystonia disorder caused by pathogenic variants in the <i>FITM2</i> gene. To date, only 5 unrelated families have been reported in the literature carrying loss-of-function variants in <i>FIMT2</i> gene. In this report, we describe a 29-year-old woman with compound heterozygous novel variants identified by trio-based exome sequencing. She carries the paternally inherited delins variant c.158_161delinsTCAT, p.(Arg53_Asn54delinsLeuIle) and the maternally inherited frameshift variant c.567del, p.(Thr190ProfsTer9) in <i>FITM2</i> gene. The patient exhibits the main features of the disease, including deafness, intellectual disability, regression of motor skills and poor overall growth. Additionally, she presents with spastic paraplegia which supports recent phenotypic expansion. We describe for the first time, novel brain magnetic resonance imaging signal alterations, not previously associated with this disorder. These neuroimaging findings may provide new insights into the neurological manifestations of Siddiqi syndrome. This case expands the phenotypic and molecular spectrum of <i>FITM2</i> associated disease and emphasizes the adult-features of this syndrome.</p> Graphical abstract <p></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

Neuroradiological Phenotype Expansion of the Siddiqi Syndrome: A Case Report

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年2月27日

查看全文
  • Paula Trilla,
  • Laia Rodriguez-Revenga,
  • Aurora Sanchez,
  • Irene Madrigal,
  • Jose Cesar Milisenda,
  • Esteban Muñoz,
  • Maria Isabel Alvarez-Mora

摘要

Siddiqi syndrome is a rare autosomal recessive deafness-dystonia disorder caused by pathogenic variants in the FITM2 gene. To date, only 5 unrelated families have been reported in the literature carrying loss-of-function variants in FIMT2 gene. In this report, we describe a 29-year-old woman with compound heterozygous novel variants identified by trio-based exome sequencing. She carries the paternally inherited delins variant c.158_161delinsTCAT, p.(Arg53_Asn54delinsLeuIle) and the maternally inherited frameshift variant c.567del, p.(Thr190ProfsTer9) in FITM2 gene. The patient exhibits the main features of the disease, including deafness, intellectual disability, regression of motor skills and poor overall growth. Additionally, she presents with spastic paraplegia which supports recent phenotypic expansion. We describe for the first time, novel brain magnetic resonance imaging signal alterations, not previously associated with this disorder. These neuroimaging findings may provide new insights into the neurological manifestations of Siddiqi syndrome. This case expands the phenotypic and molecular spectrum of FITM2 associated disease and emphasizes the adult-features of this syndrome.

Graphical abstract