探索 CNTNAP2 相关神经发育障碍的临床范围：系列病例和文献评估。

IF 1.6 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics Pub Date : 2024-10-16 DOI:10.1016/j.ejmg.2024.104979

Giulia Barcia , Giovanna Scorrano , Marlène Rio , Cyril Gitiaux , Marie Hully , Karine Poirier , Claude Besmond , Arnold Munnich , Nathalie Boddaert , Nicole Chemaly , Rima Nabbout

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引用次数: 0

摘要

据报道，CNTNAP2（一种编码接触蛋白相关蛋白样 2 的基因）的双拷贝致病变体在患者中存在多种临床表现，包括智力障碍（ID）、自闭症谱系障碍（ASD）、精神障碍以及很少与局灶性皮质发育不良相关的局灶性癫痫。我们报告了四名携带新型双拷贝 CNTNAP2 致病变体的儿童。他们表现出全面发育迟缓、精神障碍和局灶性癫痫。所有患者的脑磁共振成像异常均与局灶性颞叶发育不良一致。其中一名患者在进行基因检测之前进行了颞部切除术。局灶性皮质发育不良是 CNTNAP2 受影响患者中局灶性难治性癫痫的常见症状，在这种情况下手术似乎无效。因此，基因检测可能会对难治性局灶性癫痫的治疗选择产生影响。

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Exploring the clinical spectrum of CNTNAP2-related neurodevelopmental disorders: A case series and a literature appraisal

Biallelic pathogenic variants in CNTNAP2, a gene encoding the contactin-associated protein-like 2, have been reported in patients with various clinical presentations including intellectual disability (ID), autistic spectrum disorders (ASD), psychiatric disorders, and focal epilepsy rarely associated to focal cortical dysplasia.

We report four children carrying novel biallelic CNTNAP2 pathogenic variants. They present global developmental delay, psychiatric disorders, and focal epilepsy. All patients displayed brain MRI abnormalities consistent with focal temporal dysplasia. One patient had a temporal resection before the availability of genetic testing. Focal cortical dysplasia represents a frequent finding related to focal refractory epilepsy in CNTNAP2 affected patients, and surgery seems to be ineffective in this setting. The genetic testing could therefore be impactful on treatment choices in refractory focal epilepsies.

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来源期刊

European journal of medical genetics 医学-遗传学

CiteScore

4.10

自引率

0.00%

发文量

193

审稿时长

66 days

期刊介绍： The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.