PMID- 34667062 OWN - NLM STAT- MEDLINE DCOM- 20220113 LR - 20220113 IS - 2373-2873 (Electronic) IS - 2373-2873 (Linking) VI - 7 IP - 5 DP - 2021 Oct TI - Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the SLC17A5 gene. LID - 10.1101/mcs.a006106 [doi] LID - a006106 AB - Nonimmune hydrops fetalis, the excessive accumulation of serous fluid in the subcutaneous tissues and serous cavities of the fetus, has many possible etiologies, providing a diagnostic challenge for the physician. Lysosomal storage diseases have been reported in up to 5%-16% of nonimmune hydrops fetalis pregnancies. Infantile free sialic acid storage disease (ISSD) (OMIM #269920) is a severe form of autosomal recessive sialic acid storage disease. ISSD is caused by mutations in SLC17A5 (OMIM #604322), which encodes sialin, a lysosomal-membrane sialic acid transporter. We describe a case of fetal hydrops due to a novel homozygous deletion in the SLC17A5 gene. Prenatal single-nucleotide polymorphism (SNP) array analysis was performed on amniocytes after the discovery of fetal hydrops at 24 wk gestation revealing no copy-number variants. The SNP array, however, reported several regions of homozygosity (ROHs) including one on Chromosome 6 encompassing the SLC17A5 gene. High levels of urine sialic acid in the newborn were detected. SLC17A5 gene sequencing was initiated with no sequence variants identified; however, the assay failed to amplify exons 8 and 9, prompting an exon-level copy-number analysis that revealed a novel homozygous deletion of exons 8 and 9, inherited from heterozygous carrier parents. ISSD should be considered in the workup of patients with nonimmune hydrops fetalis, and analysis for SLC17A5 deletions should be carried out when variants are not detected by gene sequencing. CI - (c) 2021 Hasnain et al.; Published by Cold Spring Harbor Laboratory Press. FAU - Hasnain, Afia AU - Hasnain A AD - Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba R3A 1R9, Canada. FAU - Burnett, Sherri AU - Burnett S AD - Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba R3A 1R9, Canada. FAU - Agatep, Ronald AU - Agatep R AD - Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba R3A 1R9, Canada. FAU - Spriggs, Elizabeth AU - Spriggs E AD - Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba R3A 1R9, Canada. AD - Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba R3A 1R9, Canada. FAU - Chodirker, Bernard AU - Chodirker B AD - Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba R3A 1R9, Canada. AD - Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba R3A 1R9, Canada. FAU - Mhanni, Aizeddin Aziz A AU - Mhanni AAA AD - Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba R3A 1R9, Canada. AD - Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba R3A 1R9, Canada. LA - eng PT - Case Reports PT - Journal Article DEP - 20211019 PL - United States TA - Cold Spring Harb Mol Case Stud JT - Cold Spring Harbor molecular case studies JID - 101660017 RN - Free sialic acid storage disease SB - IM MH - Female MH - Homozygote MH - Humans MH - Hydrops Fetalis/genetics MH - Infant, Newborn MH - Pregnancy MH - Sequence Deletion/genetics MH - *Sialic Acid Storage Disease/genetics PMC - PMC8559617 OTO - NOTNLM OT - hydrops fetalis OT - nonimmune hydrops fetalis OT - severe hydrops fetalis EDAT- 2021/10/21 06:00 MHDA- 2022/01/14 06:00 PMCR- 2021/10/01 CRDT- 2021/10/20 06:06 PHST- 2021/05/08 00:00 [received] PHST- 2021/08/19 00:00 [accepted] PHST- 2021/10/20 06:06 [entrez] PHST- 2021/10/21 06:00 [pubmed] PHST- 2022/01/14 06:00 [medline] PHST- 2021/10/01 00:00 [pmc-release] AID - mcs.a006106 [pii] AID - 10.1101/mcs.a006106 [doi] PST - epublish SO - Cold Spring Harb Mol Case Stud. 2021 Oct 19;7(5):a006106. doi: 10.1101/mcs.a006106. Print 2021 Oct.