retreg1相关遗传性感觉自主神经病变的表型特征

IF 3.9 3区 医学 Q1 CLINICAL NEUROLOGY Journal of the Peripheral Nervous System Pub Date : 2023-07-14 DOI:10.1111/jns.12581
Arman Çakar, Gulandam Bagırova, Hacer Durmuş, Oya Uyguner, Yeşim Parman
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引用次数: 0

摘要

背景与目的RETREG1基因的纯合子功能丧失突变可导致遗传性感觉自主神经病变2B型。临床特征包括疼痛丧失、自主神经紊乱和上运动神经元特征。方法分析来自4个家族的7例RETREG1变异患者的临床和遗传特征。结果男性5例。发病年龄中位数为7.00±2.81岁(2 ~ 10岁)。无痛伤口、营养改变和足部溃疡是5例患者的主要症状,2例患者行走困难。5例患者出现运动症状。病程中位数为30.00±12.88年,5例患者发生骨髓炎,3例患者截肢。1个家族有肾脏疾病史。在另一个家庭中,三个受影响的兄弟姐妹身材矮小,并且有青春期延迟的历史。虽然临床表现以感觉体征为主,但所有患者均有不同程度的运动体征,如肌肉无力、痉挛和肌腱反射快。神经传导研究显示轴突感觉-运动神经病变5例,感觉神经病变2例。在RETREG1基因中鉴定出三种致病变异。2例无亲缘关系的患者为纯合子c.433C > T/p.(Gln145*), 1例为纯合子c.826delA/p.(Ser276Valfs*8),最后1例为新型纯合子c.102delC/p.(Ala35Glnfs*349)。在我们的研究中,所有患者都表现出与疼痛不敏感相一致的体征和症状。虽然被感觉症状所掩盖,但我们的患者也注意到运动体征。需要进一步的研究来阐明神经外特征与RETREG1突变之间的因果关系。
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Phenotypic features of RETREG1-related hereditary sensory autonomic neuropathy

Background and Aims

Homozygous loss-of-function mutations in the RETREG1 gene result in Hereditary Sensory Autonomic Neuropathy Type 2B. Clinical features include pain loss, autonomic disturbances, and upper motor neuron features.

Methods

We evaluated the clinical and genetic features of seven patients from four families with RETREG1 variants.

Results

Five patients were male. The median age of disease onset was 7.00 ± 2.81 (between 2 and 10 years). A combination of painless wounds, trophic changes, and foot ulcerations was the presenting symptom in five patients and walking difficulties in two. Motor symptoms were present in five patients. In a median disease duration of 30.00 ± 12.88 years, five patients had osteomyelitis, and three had toe amputations. A history of renal disease was present in one family. In another family, three affected siblings had short stature and a history of delayed puberty. Although sensory signs predominated the clinical findings, various degrees of motor signs such as muscle weakness, spasticity, and brisk tendon reflexes were noted in all patients. Nerve conduction studies showed axonal sensory-motor neuropathy in five patients and sensory neuropathy in two. Three pathogenic variants were identified in the RETREG1 gene. Two unrelated patients had a homozygous c.433C > T/p.(Gln145*), one a homozygous c.826delA/p.(Ser276Valfs*8), and the last had a novel homozygous c.102delC/p.(Ala35Glnfs*349) variants.

Interpretation

In our study, all patients showed signs and symptoms consistent with pain insensitivity. Although shadowed by sensory symptoms, motor signs were noted in our patients. Further studies are necessary to clarify the causal relationship between extra-neurological features and RETREG1 mutations.

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来源期刊
CiteScore
6.10
自引率
7.90%
发文量
45
审稿时长
>12 weeks
期刊介绍: The Journal of the Peripheral Nervous System is the official journal of the Peripheral Nerve Society. Founded in 1996, it is the scientific journal of choice for clinicians, clinical scientists and basic neuroscientists interested in all aspects of biology and clinical research of peripheral nervous system disorders. The Journal of the Peripheral Nervous System is a peer-reviewed journal that publishes high quality articles on cell and molecular biology, genomics, neuropathic pain, clinical research, trials, and unique case reports on inherited and acquired peripheral neuropathies. Original articles are organized according to the topic in one of four specific areas: Mechanisms of Disease, Genetics, Clinical Research, and Clinical Trials. The journal also publishes regular review papers on hot topics and Special Issues on basic, clinical, or assembled research in the field of peripheral nervous system disorders. Authors interested in contributing a review-type article or a Special Issue should contact the Editorial Office to discuss the scope of the proposed article with the Editor-in-Chief.
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