European journal of medical genetics最新文献

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IF 1.7 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics

Pub Date : 2025-01-01

引用次数: 0

IF 1.7 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics

Pub Date : 2025-01-01

引用次数: 0

IF 1.7 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics

Pub Date : 2025-01-01

引用次数: 0

IF 1.7 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics

Pub Date : 2025-01-01

引用次数: 0

Feasibility study of the psychosocial effects of an online mindfulness intervention in children and adolescents with achondroplasia and their parents 在线正念干预对软骨发育不良儿童和青少年及其父母的社会心理影响的可行性研究

IF 1.6 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics

Pub Date : 2024-11-25 DOI: 10.1016/j.ejmg.2024.104984

Àngel Casellas , Anna Casellas-Grau , Àngel Serra , Ester Busquets-Alibés

Introduction

Achondroplasia is a common skeletal dysplasia caused by a mutation in the FGFR3 gene, leading to disproportionate short stature and various clinical features. Despite the absence of definitive pharmacological treatments, mindfulness-based interventions may offer psychosocial benefits for affected individuals and their families.

Objectives

This study aimed to assess the feasibility and psychosocial effects of an online mindfulness intervention for children and adolescents with achondroplasia and their parents.

Methodology

The intervention was an eight-week, synchronous online program with 15 participants: seven children and adolescents with achondroplasia and eight parents. Quantitative outcomes were assessed pre-and post-intervention using the State-Trait Anxiety Inventory for Children (STAIC) and the Multifactorial Self-Assessment Child Adaptation Test (TAMAI) for the younger participants, along with the Brief Symptom Inventory (BSI-18) for parents. Participant satisfaction was assessed using a customized survey, and qualitative data were collected through semi-structured interviews.

Results

The study demonstrated high feasibility, with 84.61% adherence and 93.75% participant satisfaction. Average anxiety levels decreased in children and adolescents (30.60 ± 5.12 to 26.80 ± 6.94, p = .285) and parents (3.67 ± 3.98 to 1.00 ± .89, p = .066). Emotional regulation was the most reported improvement category by children and adolescents (31.4%), while general well-being was the most noted by parents (29.63%).

Conclusions

The results support the feasibility of this online mindfulness intervention for individuals with achondroplasia and their parents, indicating benefits for psychosocial well-being. Future studies should address these limitations by expanding sample sizes, exploring hybrid intervention models, and ensuring data anonymity. Integrating mindfulness into comprehensive psychosocial care strategies could enhance the quality of life for these populations.

导言软骨发育不良是一种常见的骨骼发育不良，由表皮生长因子受体 3 基因突变引起，导致身材矮小不成比例和各种临床特征。本研究旨在评估针对软骨发育不全儿童和青少年及其父母的在线正念干预的可行性和心理社会效果。方法干预是一个为期八周的同步在线项目，共有 15 名参与者：七名软骨发育不全儿童和青少年以及八名父母。在干预前和干预后，使用儿童状态-特质焦虑量表（STAIC）和多因素自我评估儿童适应测试（TAMAI）对年轻参与者进行定量结果评估，并使用简明症状量表（BSI-18）对家长进行评估。通过定制的调查问卷对参与者的满意度进行了评估，并通过半结构化访谈收集了定性数据。结果该研究的可行性很高，坚持率为 84.61%，参与者满意度为 93.75%。儿童和青少年（从 30.60 ± 5.12 到 26.80 ± 6.94，p = .285）以及家长（从 3.67 ± 3.98 到 1.00 ± .89，p = .066）的平均焦虑水平均有所下降。情绪调节是儿童和青少年报告改善最多的类别（31.4%），而一般幸福感则是父母注意最多的类别（29.63%）。未来的研究应通过扩大样本量、探索混合干预模式和确保数据匿名性来解决这些局限性。将正念纳入全面的社会心理护理策略可提高这些人群的生活质量。

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引用次数: 0

De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model 与智障有关的 UPF1 新变异：使用果蝇模型的人类遗传和功能证据

IF 1.6 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics

Pub Date : 2024-11-19 DOI: 10.1016/j.ejmg.2024.104983

Daisuke Nakato , Yuri Yasue , Kohei Matsubara , Hisato Suzuki , Rika Kosaki , Toshiki Takenouchi , Mamiko Yamada , Fuyuki Miya , Toshiyuki Takano-Shimizu , Kenjiro Kosaki

Nonsense-mediated mRNA decay represents a biologic clearing system against aberrant mRNAs harboring nonsense and frameshift mutations and depends on three factors, UPF1, UPF2, and UPF3 (UPF3A, UPF3B). While germline pathogenic variants of UPF3B and UPF2 are known to be associated with neurodevelopmental disorders, germline variants in UPF1 have not been reported, until date, as being associated with any human disorders. Herein, we report two unrelated patients with de novo UPF1 variants. Patient 1 was a 5-year-old girl with intellectual disabilities, frontal bossing, hypertelorism, high frontal hairline, and thin upper lip. Patient 2 was a 2-year-old female child with intellectual disabilities and similar features. Trio exome analysis revealed a de novo heterozygous variant in UPF1 in both the patients (Patient 1: NM_002911.4): c.949_951del, p.(Asp317del); Patient 2: c.1984G>A, p.(Asp662Asn)). We conducted experiments using Drosophila models to evaluate the functional relevance of these UPF1 variants. Enforced expression of the wild-type Upf1 allele under the control of the pan-neuronal nSyb-GAL4 driver caused mortality, mostly at the pupal stage, but still yielded adult flies. By contrast, expression of the Asp294del (Asp317del in humans) variant caused embryonic or early larval lethality and that of the Asp643Asn (Asp662Asn in humans) caused third instar larval lethality; neither produced pupa nor adult fly. Thus, the developmental defects caused by the variants, especially Asp294del, were more severe than those caused by the wild-type allele. These observations suggest that both variants are deleterious mutations. In conclusion, germline variants in UPF1 are associated with intellectual disabilities in humans.

无义介导的mRNA衰变是一种生物清除系统，可清除携带无义和缺框突变的异常mRNA，它取决于三个因子，即UPF1、UPF2和UPF3（UPF3A、UPF3B）。众所周知，UPF3B和UPF2的种系致病变体与神经发育障碍有关，但迄今为止，UPF1的种系变体尚未被报道与任何人类疾病有关。在此，我们报告了两名无亲属关系的UPF1变异患者。患者1是一名5岁女孩，患有智力障碍、额部隆起、前额发际线高和上唇薄。患者2是一名2岁的女性儿童，有智力障碍和类似的特征。三重外显子组分析显示，这两名患者的UPF1都存在一个新发杂合变异（患者1：NM_002911.4）：c.949_951del，p. (Asp317del)；患者2：c.1984G>A，p. (Asp662Asn)）。我们利用果蝇模型进行了实验，以评估这些 UPF1 变体的功能相关性。在泛神经元 nSyb-GAL4 驱动程序的控制下，强制表达野生型 Upf1 等位基因会导致死亡，主要是在蛹期，但仍能产生成虫。相比之下，Asp294del（人类为 Asp317del）变体的表达会导致胚胎或幼虫早期死亡，而 Asp643Asn（人类为 Asp662Asn）变体的表达会导致三龄幼虫死亡；两者都不会产生蛹或成蝇。因此，变体（尤其是 Asp294del）造成的发育缺陷比野生型等位基因造成的缺陷更为严重。这些观察结果表明，这两个变体都是有害突变。总之，UPF1的种系变异与人类的智力障碍有关。

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引用次数: 0

Hypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR 由 EDAR 基因内重复引起的表皮发育不全。

IF 1.6 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics

Pub Date : 2024-10-29 DOI: 10.1016/j.ejmg.2024.104982

Lise Graversen , Mette Sommerlund , Casper Kruse , Hans Gjørup , Pernille Axel Gregersen , Uffe Birk Jensen , Jenny Blechingberg

Hypohidrotic Ectodermal Dysplasia is a syndrome with hypotrichosis, hypohidrosis, and hypodontia as the main symptoms. The prevalence is estimated to one in 5000–10,000 persons. In 10–15% the disease is caused by pathogenic variants in EDAR, and most of the known causal variants to date are missense or nonsense variants. We present a patient with classic Hypohidrotic Ectodermal Dysplasia and mammary gland aplasia with a duplication within EDAR as the likely cause. The duplication is de novo in the patient, and genome sequencing of DNA extracted from blood has revealed that the duplication is in tandem conformation, most likely entailing an altered EDAR protein with a dominant negative effect. This is to our knowledge the first report of an intragenic duplication in EDAR as causal for Hypohidrotic Ectodermal Dysplasia.

多汗症外胚层发育不良是一种综合征，主要症状为多毛症、多汗症和牙齿发育不良。发病率估计为每 5 000-10 000 人中有一人患病。10%-15%的患者是由 EDAR 的致病变异引起的，目前已知的大多数致病变异都是错义变异或无义变异。目前已知的致病变异多为错义变异或无义变异。我们为大家介绍一位患有典型的多脂性外胚层发育不良和乳腺增生症的患者，其病因可能是 EDAR 中的一个重复基因。从患者血液中提取的 DNA 进行基因组测序后发现，该重复序列为串联构象，很可能导致 EDAR 蛋白发生改变，产生显性负效应。据我们所知，这是首次报道 EDAR 基因内重复是导致多毛外胚层发育不良的原因。

引用次数: 0

Automated variant re-evaluation is labor-balanced and gives clinically relevant results: Hereditary cardiac disease as a use case 自动变异再评估可实现人力平衡，并提供与临床相关的结果：以遗传性心脏病为例。

IF 1.6 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics

Pub Date : 2024-10-29 DOI: 10.1016/j.ejmg.2024.104981

Anne Grosen , Charlotte K. Lautrup , Emil Bahsen , Henrik K. Jensen , Dorte L. Lildballe

Background

Genetic findings influence clinical care of patients suspected of hereditary cardiac diseases. As additional knowledge arises over time, the classification of genetic variants may change. The labor cost associated with systematic manual reevaluation for reported variants is substantial. We applied an automated variant classifier for reevaluation of previous reported variants to assess how such tools may assist in manual reevaluation.

Methods

Historically (2010–2022), patients (N = 2987) suspected of inherited cardiomyopathies or ion-channel disorders were screened for genetic variants in at least one of up to 114 genes. We had reported 1455 unique variants, of which 742 were among the 14 most relevant genes. In the 14-gene-group, we compared our reported classification to that of an autoclassifier and manually reevaluated variant classification of all variants. Among the remaining genes (N = 100), only variants where the autoclassifier predicted change of clinical impact, such as variant of uncertain significance to likely pathogenic or oppositely, were manually reevaluated.

Results

We identified 9% (66/742) of variants with clinical impact in the 14-gene-group. Of these, 91% could have been identified solely evaluating the 120 variants where the autoclassifier had predicted a change of clinical impact. In the 100 remaining genes, a change of clinical impact was identified in 3% (22/713) after manual reevaluation.

Conclusion

Using an autoclassifier reduces the workload to identify variants likely to have a change in variant class with clinical impact. Hence, we recommend using such tools to identify the variants most relevant to manually reevaluate to improve patient care.

背景：遗传学研究结果影响着对疑似遗传性心脏病患者的临床治疗。随着时间的推移，新知识的出现，基因变异的分类可能会发生变化。对已报告的变异进行系统的人工重新评估需要大量人力成本。我们应用自动变异分类器对以前报告的变异进行重新评估，以评估此类工具可如何协助人工重新评估。方法：在过去（2010-2022 年），我们对疑似遗传性心肌病或离子通道疾病的患者（N=2,987）进行了筛查，以检测多达 114 个基因中至少一个基因的遗传变异。我们报告了 1,455 个独特的变异基因，其中 742 个属于 14 个最相关的基因。在 14 个基因组中，我们将报告的分类与自动分类器的分类进行了比较，并人工重新评估了所有变异的变异分类。在其余的基因（N=100）中，只有自动分类器预测对临床有影响的变异，如意义不确定的变异到可能致病或相反的变异，才进行人工重新评估：我们在 14 个基因组中发现了 9%（66/742）具有临床影响的变异。其中，91%的变异本可以通过评估 120 个自动分类器预测有临床影响的变异来确定。在剩余的 100 个基因中，3%（22/713）的基因在人工重新评估后发现了临床影响的变化：结论：使用自动分类器可减少识别变异的工作量，因为变异类别的改变可能会对临床产生影响。因此，我们建议使用此类工具来识别与人工重新评估最相关的变异，以改善患者护理。

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引用次数: 0

Focal segmental glomerulosclerosis associated with undescribed mutation in the LMX1B gene 与未描述的 LMX1B 基因突变有关的局灶性肾小球硬化症

IF 1.6 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics

Pub Date : 2024-10-28 DOI: 10.1016/j.ejmg.2024.104980

María Adoración Martín Gómez , Mercedes Caba Molina , Miriam León Fradejas , Juana Alonso Titos , Rafael del Pozo Alvarez

A 50-year-old woman presented with nephrotic proteinuria and preserved glomerular filtration rate. A renal biopsy showed focal segmental glomerulosclerosis (FSGS) and glomerular basement membrane thinning. Her brother has a long history of chronic kidney disease, formerly diagnosed with minimal change disease, and eventually received a kidney allograft, developing high-grade proteinuria and decline in kidney function. FSGS was found by biopsy. Lastly, one paternal uncle suffered from the same condition, but he declined a biopsy. A genetic test identified a novel missense mutation in LMX1B, c.349G > A:p(Gly117Ser). Thus, the present series of cases shows a familial LMX1B-associated nephropathy presenting with FSGS.

一名 50 岁女性出现肾病性蛋白尿，肾小球滤过率保留。肾活检显示其患有局灶节段性肾小球硬化症（FSGS）和肾小球基底膜变薄。她的兄弟长期患有慢性肾病，以前被诊断为微小病变，最后接受了肾脏异体移植，出现了高蛋白尿和肾功能衰退。活组织检查发现了 FSGS。最后，一位叔父也患有同样的疾病，但他拒绝接受活组织检查。基因检测发现 LMX1B 存在一个新的错义突变，即 c.349G>A:p(Gly117Ser)。因此，本系列病例显示了一种家族性 LMX1B 相关性肾病，表现为 FSGS。

引用次数: 0

IF 1.6 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics

Pub Date : 2024-10-17 DOI: 10.1016/j.ejmg.2024.104978

Makoto Arioka , Shinji Nakamura , Katsufumi Nishioka , Kota Inoue , Yasuhiro Nakao , Yumi Miyai , Hirosuke Morita , Kosuke Koyano , Toshiki Takenouchi , Saneyuki Yasuda , Yoichi Chiba , Takashi Iwase , Masaki Ueno , Takashi Kusaka

Bohring-Opitz syndrome (BOS) is a rare disease with a characteristic facial appearance and limb position. This report describes a case of BOS complicated by persistent pulmonary hypertension of the newborn (PPHN) and formation of abnormal alveoli that was confirmed by autopsy. A female neonate was born by cesarean section at 37 weeks and 2 days of gestation and found to have a nevus flammeus, exophthalmos, abnormal palate, retraction of the mandible, and a posture characteristic of BOS. The patients had severe PPHN requiring inhalation of nitric oxide. Genetic testing revealed a de novo frameshift variant in ASXL1. Autopsy revealed that the lung was at the saccular stage, equivalent to 28–34 weeks of gestation. This is the first report to present pathological evidence of immaturity of the lung that may be associated with PPHN in a patient with BOS caused by a variant in ASXL1.

波林-奥皮茨综合征（BOS）是一种罕见疾病，具有特征性的面部外观和肢体位置。本报告描述了一例因新生儿持续性肺动脉高压（PPHN）和异常肺泡的形成而并发的 BOS 病例，该病例经尸检证实。一名女性新生儿在妊娠 37 周零 2 天时剖宫产出生，被发现有火焰痣、眼球外翻、腭部异常、下颌骨后缩以及 BOS 特征性姿势。患者有严重的 PPHN，需要吸入一氧化氮。基因检测显示，ASXL1存在一个新的框架移位变异。尸检显示肺部处于囊肿期，相当于妊娠 28-34 周。这是首例报告因ASXL1基因变异而导致BOS的患者肺部不成熟并可能与PPHN有关的病理证据。

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