Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome.
Clinical and molecular evaluation of 13 Brazilian patients with Gomez-López-Hernández syndrome.
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13 名巴西戈麦斯-洛佩斯-埃尔南德斯综合征患者的临床和分子评估。
DOI：
10.1002/ajmg.a.62059
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发表时间：
2021
期刊：
影响因子：
--
通讯作者：
Mend
中科院分区：
文献类型：
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作者：
Perrone,Eduardo;Perez,AnaBeatrizAlvarez;D'Almeida,Vânia;deMello,ClaudiaBerlim;Jacobina,MarcelaAmaralAvelino;Loureiro,RafaelMaffei;Burlin,Stênio;Migliavacca,Michele;doAmaralVirmond,Luiza;Graziadio,Carla;Pedroso,JoséLuiz;Mend
我们的目标是对戈麦斯-L-埃尔南德斯综合征(GLHS)患者的临床特征进行描述，并从分子水平对其进行研究。临床方案，包括形态学和神经心理学评估，应用于13例GLHS患者。对12例患者进行单核苷酸多态性(SNP)分析和全外显子测序，其中6例采用高分辨率重T2加权序列(HRT2)对三叉神经进行分析。11例患者中有5例(45.4%)存在三叉神经麻醉，84.6%的患者出现短头/短头畸形，92.3%的患者出现面中部后缩。一名患者有智力残疾。HRT2序列显示六名患者中有四名三叉神经发育不良；所有四名患者都有三叉神经麻醉的临床迹象。没有发现共同的候选基因来解释GLHS的表型。对于GLHS的诊断，RES似乎不是一个强制性的检查结果。我们建议，至少有以下两个标准的患者应考虑诊断为GLHS：局灶性无疤痕脱发、菱形脑融合、颅面畸形(短头畸形、短头畸形或面中部后缩)、三叉神经麻醉或三叉神经解剖异常。为了更好地了解GLHS的病因，下一步可能是对脱发组织进行胚系全基因组测序或DNA和/或RNA测序的研究。
We aim to characterize patients with Gomez‐López‐Hernández syndrome (GLHS) clinically and to investigate them molecularly. A clinical protocol, including a morphological and neuropsychological assessment, was applied to 13 patients with GLHS. Single‐nucleotide polymorphism (SNP) array and whole‐exome sequencing were undertaken; magnetic resonance imaging was performed in 12 patients, including high‐resolution, heavily T2‐weighted sequences (HRT2) in 6 patients to analyze the trigeminal nerves. All patients presented alopecia; two did not present rhombencephalosynapsis (RES); trigeminal anesthesia was present in 5 of the 11 patients (45.4%); brachycephaly/brachyturricephaly and mid‐face retrusion were found in 84.6 and 92.3% of the patients, respectively. One patient had intellectual disability. HRT2 sequences showed trigeminal nerve hypoplasia in four of the six patients; all four had clinical signs of trigeminal anesthesia. No common candidate gene was found to explain GLHS phenotype. RES does not seem to be an obligatory finding in respect of GLHS diagnosis. We propose that a diagnosis of GLHS should be considered in patients with at least two of the following criteria: focal non‐scarring alopecia, rhombencephalosynapsis, craniofacial anomalies (brachyturrycephaly, brachycephaly or mid‐face retrusion), trigeminal anesthesia or anatomic abnormalities of the trigeminal nerve. Studies focusing on germline whole genome sequencing or DNA and/or RNA sequencing of the alopecia tissue may be the next step for the better understanding of GLHS etiology.