This paper reports the case of a 10-month-old male infant with Beckwith-Wiedemann syndrome (BWS) who presented with a reducible right inguinal mass and an empty scrotum for 10 months and was admitted for elective surgery. Preoperative ultrasonography revealed a right adrenal mass, which was pathologically diagnosed as ganglioneuroblastoma (GNB) after surgical excision. The patient exhibited characteristic features of BWS, including omphalocele, flame-shaped nevus on the forehead, bilateral earlobe creases, and embryonal tumor. Next-generation sequencing identified a heterozygous mutation in the CDKN1C gene (chr11:2905365), confirming the diagnosis of BWS. Early diagnosis, standardized management, and tumor surveillance are crucial for improving prognosis in children with BWS. Ultrasonography enables early detection of tumors and informs clinical decision-making regarding intervention.
Humans ; Beckwith-Wiedemann Syndrome/genetics* ; Male ; Ganglioneuroblastoma/complications* ; Infant ; Cyclin-Dependent Kinase Inhibitor p57/genetics* ; Mutation

OBJECTIVETo explore the genetic cause for two children with omphalocele.

METHODSThe patients were examined, and the medical history of their families was collected. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was performed to detect potential mutation in the patients.

RESULTSLoss of methylation of imprinting center 2 (IC2) at the 11p15.5 region of the maternal chromosome was detected in both children.

CONCLUSIONThe two patients were diagnosed with Beckwith-Wiedemann syndrome by MS-MLPA. The loss of methylation of IC2 probably underlies the disease in both patients.

Beckwith-Wiedemann Syndrome ; genetics ; Chromosomes, Human, Pair 11 ; DNA Methylation ; Female ; Genomic Imprinting ; Humans ; Infant ; Infant, Newborn ; Male ; Multiplex Polymerase Chain Reaction

OBJECTIVETo investigate the expression of imprinted genes related to Beckwith-Wiedemann syndrome (BWS) in human oocytes and preimplantation embryos for understanding the relationship between assisted reproductive technology (ART) and BWS.

METHODSUsing nested reverse transcription-PCR to analyze the expression of P57KIP2, LIT1, TSSC3 in human oocytes and preimplantation embryos.

RESULTSTranscripts of P57KIP2 were detected in human oocytes and at all stages of preimplantation embryos. LIT1 was expressed only in stages of 8-cell and blastocyst. Transcripts of TSSC3 could not be detected in human oocytes and preimplantation embryos.

CONCLUSIONTranscripts of P57KIP2 and LIT1, imprinted genes related to BWS, were detected in human preimplantation development; ART might affect the epigenetics of imprinted genes in early embryogenesis.

Beckwith-Wiedemann Syndrome ; genetics ; Blastocyst ; metabolism ; Cyclin-Dependent Kinase Inhibitor p57 ; genetics ; Female ; Gene Expression Profiling ; Genomic Imprinting ; genetics ; Humans ; Nuclear Proteins ; genetics ; Oocytes ; metabolism ; Potassium Channels, Voltage-Gated ; genetics ; Pregnancy ; Reverse Transcriptase Polymerase Chain Reaction