ighmbp2相关疾病的临床和遗传景观：从新的变异到表型的见解。

IF 1.7 4区生物学 Q3 GENETICS & HEREDITY

American Journal of Medical Genetics Part A Pub Date : 2025-05-12 DOI:10.1002/ajmg.a.64116

Tinatin Tkemaladze, Kakha Bregvadze, Luka Abashishvili, Gocha Chikvinidze, Angelica Maria Delgado Vega, Fizza Akbar, Sara Khan, Salman Kirmani

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引用次数: 0

摘要

IGHMBP2的致病变异与脊髓性肌萎缩伴呼吸窘迫1型（SMARD1）和常染色体隐性2S型（AR-CMT2S）以及相对广泛的罕见非典型表型相关。我们描述了5例患者的临床和分子特征，这些患者具有与已知和新型IGHMBP2致病变异相关的不同临床表现。基因型-表型相关性很明显，突出了特定变异与SMARD1或AR-CMT2S的关联。这项研究扩大了ighmbp2相关疾病的范围，并强调了研究不同人群以提高诊断准确性和完善基因型-表型相关性的必要性。

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Clinical and Genetic Landscape of IGHMBP2-Related Disorders: From Novel Variants to Phenotypic Insights.

Pathogenic variants in IGHMBP2 have been associated with spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Autosomal Recessive Charcot-Marie-Tooth disease type 2S (AR-CMT2S), as well as a relatively wide spectrum of rare, atypical phenotypes. We describe clinical and molecular features of five patients who have diverse clinical findings associated with known and novel IGHMBP2 pathogenic variants. Genotype-phenotype correlations are evident, highlighting the association of specific variants with SMARD1 or AR-CMT2S. This study expands the spectrum of the IGHMBP2-related disease and highlights the necessity to study diverse populations to enhance diagnostic accuracy and refine genotype-phenotype correlations.

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来源期刊

American Journal of Medical Genetics Part A 生物-遗传学

CiteScore

3.50

自引率

5.00%

发文量

432

审稿时长

2-4 weeks

期刊介绍： The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .