A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To determine the genotype of a family affected with oculocutaneous albinism (OCA) and to provide genetic counseling and prenatal diagnosis.</p><p><b>METHODS</b>To determine the genotypes and mutational sites through PCR and sequencing for all exons and exon-intron junctions of 4 OCA genes in the proband and the P gene of her parents. Prenatal genotyping of the fetus was carried out using amniocentesis sample.</p><p><b>RESULTS</b>The patient was diagnosed with OCA2 based on a genotype of c.1327G>A/c.2360C>T. Her father was heterozygous for c.2360C> T, whilst her mother has none of the two mutations. c.1327G>A is therefore a maternal de novo mutation. Neither of the mutations was found in the fetus.</p><p><b>CONCLUSION</b>A maternally inherited de novo mutation c.1327G>A has been identified in the patient. In order to detect de novo mutations, full sequence analysis is necessary.</p>

Fetal meconium peritonitis complicated with bacterial infection.

Fetal meconium peritonitis complicated by bacterial infection is extremely rare. We report a case of fetal ascites at 21 weeks of gestation with subsequent development of loculation, encapsulation, and calcification at 25 weeks. Paracentesis of loculated ascitic fluid at 28 weeks of gestation showed a purulent appearance with the presence of cocci bacteria, increase in white cell count, and a low glucose level, which were suggestive of bacterial infection. However, no sources of maternal infection could be identified. The total bilirubin level of the ascitic fluid was normal (21 micromol/L). A healthy baby was delivered at 37 weeks. CT scan revealed normal bowel without any sign of perforation. We postulate that when ascitic fluid becomes loculated, a normal bilirubin level on paracentesis indicates spontaneous closure of a previous bowel perforation.