Genetic analysis of an infant death due to a paternally derived FOXF1 somatic-gonadal mosaic variant / 中华医学遗传学杂志

OBJECTIVE@#To investigate the genetic characteristics and cause of death for an infant with alveolar capillary dysplasia and pulmonary vein misalignment (ACD/MPV).@*METHODS@#An infant with ACD/MPV diagnosed at the Affiliated Maternity and Child Health Care Hospital of Nantong University in September 2022 was selected as the study subject. Clinical data of the infant were collected. Whole exome sequencing (WES) was carried out to detect genetic variants in the skin tissue, and Sanger sequencing was performed for verifying the candidate variants in the parents. Droplet digital PCR (ddPCR) was used to determine the mosaicism ratio of the variant in different germ layer-derived samples from the father.@*RESULTS@#The infant had died within 2 days after birth due to hypoxemia and respiratory distress. WES revealed that she has harbored a c.433C>T nonsense variant in exon 1 of the FOXF1 gene, which was unreported previously. Sanger sequencing has verified the variant in the infant, with her mother's locus being the wild-type and a minor variant peak noted in her father. ddPCR indicated that the mosaic ratio of the c.433C>T variant in the father's sperm was 27.18%, with the mosaic ratios of the variant in tissues originating from the three germ layers ranging from 11% to 28%.@*CONCLUSION@#The c.433C>T variant derived from the paternal germline and somatic mosaicism of the FOXF1 gene had probably predisposed to the neonatal death of this infant. ddPCR is an effective method for detecting mosaic variants.

Analysis of causes of misdiagnosis of primary hyperparathyroidism and preventive strategies / 中国普通外科杂志

Objective To analyse and explore the situation and causes of misdiagnosed primary hyperparathyroidism(PHPT),so as to develop some strategies for preventing and reducing misdiagnosis.Methods Clinical data of 94 misdiagnosed patients with PHPT treated in Beijing Jishuitan Hospital from November 1992 to April 2009 were collected and analyzed retrospectively.Results All cases were confirmed by operation and pathology.Among the 94 cases,90 cases were of parathyroid adenoma,and 4 cases of parathyroid carcinoma.The rate of misdiagnosis was 97.9%(94/96).The length of time of misdiagnosis was 2 months to 20 years;