Li Qinghong, Sun Chunmei, Guo Jinzhen, Zhai Wen, Zhang Liping
Department of Neonatology, Northwest Women's and Children's Hospital, Yanta District, No. 1616, Yanxiang Road, Xi'an, 7100061, Shaanxi, People's Republic of China.
Genetic Medical Center, Northwest Women's and Children's Hospital, Xi'an, 7100061, Shaanxi, People's Republic of China.
Mol Cytogenet. 2021 Jul 13;14(1):36. doi: 10.1186/s13039-021-00554-1.
The terminal 10q26 deletion syndrome is a clinically heterogeneous disorder without identified genotype-phenotype correlations. We reported a case of congenital asymmetric crying facies (ACF) syndrome with 10q26.12qter deletion and discussed their genotype-phenotype correlations and the potentially contributing genes involving the etiology of ACF.
We reported a case of neonatal 10q26.12qter deletion and summarized the genotype-phenotype correlations and contributing genes of 10q26.12qter deletion from DECIPHER database and published studies. Meanwhile, we analyzed the potential pathogenic genes contributing to 10q26 deletion syndrome. The female preterm infant harboring 10q26.12qter deletion showed symptoms of abnormal craniofacial appearance with rare congenital asymmetric crying facies, developmental retardation, congenital heart disease, and pulmonary artery hypertension. The deleted region was 13.28 Mb in size as detected by G-banding and array comparative genome hybridization, containing 62 Online Mendelian Inheritance in Man (OMIM) catalog genes. We summarized data from 17 other patients with 10q26.12qter deletion, 11 from the DECIPHER database and 6 from published studies. Patients with monoallelic WDR11 and FGFR2 deletions located in 10q26.12q26.2 were predisposed to craniofacial dysmorphisms, growth retardation, intellectual disability and cardiac diseases.
ACF is a facial dysmorphism frequently accompanied by other systemic deformities. It is a genetic abnormality that may associate with terminal 10q26.12 deletion. Early cardiac, audiologic, cranial examinations and genetic detection are needed to guide early diagnosis and treatment strategy.
10q26末端缺失综合征是一种临床异质性疾病，尚未明确基因型与表型的相关性。我们报告了一例患有10q26.12qter缺失的先天性不对称哭泣面容（ACF）综合征病例，并讨论了其基因型与表型的相关性以及可能与ACF病因相关的基因。
我们报告了一例新生儿10q26.12qter缺失病例，并从DECIPHER数据库及已发表的研究中总结了10q26.12qter缺失的基因型与表型的相关性及相关基因。同时，我们分析了导致10q26缺失综合征的潜在致病基因。这名患有10q26.12qter缺失的女性早产儿表现出颅面外观异常的症状，伴有罕见的先天性不对称哭泣面容、发育迟缓、先天性心脏病和肺动脉高压。通过G显带和阵列比较基因组杂交检测到缺失区域大小为13.28 Mb，包含62个在线人类孟德尔遗传（OMIM）编目基因。我们总结了另外17例10q26.12qter缺失患者的数据，其中11例来自DECIPHER数据库，6例来自已发表的研究。位于10q26.12q26.2的单等位基因WDR11和FGFR2缺失的患者易患颅面畸形、生长发育迟缓、智力残疾和心脏疾病。
ACF是一种常伴有其他全身畸形的面部畸形。它是一种可能与10q26.12末端缺失相关的基因异常。需要进行早期心脏、听力、头颅检查和基因检测，以指导早期诊断和治疗策略。
