Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Wroclaw Medical University, 50-368 Wroclaw, Poland.
Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.
Genes (Basel). 2024 Feb 19;15(2):256. doi: 10.3390/genes15020256.
Intellectual disability with speech delay and behavioural abnormalities, as well as hypotonia, seizures, feeding difficulties and craniofacial dysmorphism, are the main symptoms associated with pathogenic variants of the gene. The range of clinical manifestations of the ZMYND phenotype is constantly being expanded by new cases described in the literature. Here, we present two previously unreported paediatric patients with neurodevelopmental challenges, who were diagnosed with missense variants in the gene. It should be noted that one of the individuals manifested with hyperinsulinaemic hypoglycaemia (HH), a symptom that was not described before in published works. The reason for the occurrence of HH in our proband is not clear, so we try to explain the origin of this symptom in the context of the syndrome. Thus, this paper contributes to knowledge on the range of possible manifestations of the disease and provides further evidence supporting its association with neurodevelopmental challenges.
智力障碍伴言语延迟和行为异常，以及低张力、癫痫发作、喂养困难和颅面畸形，是与 基因致病性变异相关的主要症状。通过文献中描述的新病例，ZMYND 表型的临床表现范围不断扩大。在这里，我们介绍了两名以前未报告的有神经发育挑战的儿科患者，他们被诊断为 基因中的错义变异。值得注意的是，其中一个个体表现出高胰岛素血症低血糖症（HH），这一症状在以前的文献中没有描述过。我们的先证者发生 HH 的原因尚不清楚，因此我们试图在 综合征的背景下解释这一症状的起源。因此，本文有助于了解 疾病可能的表现范围，并提供了进一步的证据支持其与神经发育挑战的关联。
