Pediatrics Division, Department of Genetics, Hospital Civil de Guadalajara "Dr. Juan I. Menchaca".
Diagnostic and Paramedic Auxiliary Division, Cytogenetics Unit, Hospital Civil de Guadalajara "Dr. Juan I. Menchaca".
Gac Med Mex. 2022;158(4):202-209. doi: 10.24875/GMM.M22000673.
Epigenetic and genomic imprinting alterations of the 11p15.5 region cause excessive or deficient growth, which result in Beckwith-Wiedemann syndrome (BWS) or Silver-Russell syndrome (SRS), respectively.
To evaluate the methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) methylation analysis technique in the diagnosis of BWS and SRS.
11p15.5 methylation and variants were evaluated in patients with clinical diagnosis of BWS and SRS using the MS-MLPA technique in peripheral blood DNA.
Paternal uniparental disomy and loss of maternal IC2 methylation were identified in two patients with BWS who had omphalocele and macroglossia, respectively. Paternal IC1hypomethylation was recorded in two patients with SRS of classic phenotype.
Adequate genotype-phenotype correlation was observed with the methylation defects that were identified, which confirms the usefulness of MLPA as a first-line study in patients diagnosed with BWS and SRS.
11p15.5 区域的表观遗传和基因组印记改变导致过度或不足的生长，分别导致 Beckwith-Wiedemann 综合征（BWS）或 Silver-Russell 综合征（SRS）。
评估甲基化特异性多重连接依赖性探针扩增（MS-MLPA）甲基化分析技术在 BWS 和 SRS 的诊断中的应用。
采用 MS-MLPA 技术检测外周血 DNA 中临床诊断为 BWS 和 SRS 的患者 11p15.5 甲基化和变异情况。
两名患有脐膨出和巨舌症的 BWS 患者中分别发现了父源单亲二体和母源 IC2 甲基化缺失。两名经典表型的 SRS 患者中记录到了父源 IC1 低甲基化。
与所鉴定的甲基化缺陷观察到了充分的基因型-表型相关性，这证实了 MLPA 作为 BWS 和 SRS 患者一线研究的有用性。
