Fetal hydrops

Gene: NEU1

Comment when marking as ready: Rated as green, and mode of inheritance complete.

Created: 19 Dec 2016, 1:46 p.m.

Comment on list classification: Updated rating from Red to Green: Gene added to panel by reviewer. Two green reviews (including one by submitter). Literature shows at least 3 cases of NEU1 variants from different populations presenting with Fetal hydrops. OMIM records >3 cases of NEU1 mutations in Sialidosis; 'Fetal hydrops' is listed as a clinical phenotype for Sialidosis (OMIM:256550). NEU1 is a confirmed DD gene for SIALIDOSIS.

Created: 15 Dec 2016, 4:27 p.m.

Comment on mode of inheritance: Mode of inheritance confirmed by OMIM and G2P.

Created: 15 Dec 2016, 4:23 p.m.

PMID:11702224 report a Turkish family with parental consanguinity and at risk for sialidosis type II. The proband was a premature male infant that presented with symptoms including hydrops. A previous pregnancy of the mother terminated in a spontaneous abortion in the 13th week of gestation. A successive pregnancy showed hydrops fetalis. DNA analysis of the family showed that both the proband and the third sibling had a novel homozygous nonsense point mutation at nucleotide 87 in exon 1 of the NEU1 gene causing a termination codon (W29X). DNA sequencing identified the parents as heterozygous carriers.

Created: 15 Dec 2016, 4:21 p.m.

PMID:23433491 (Lee et al., 2014) describe a Korean neonate with hydrops fetalis, and a diagnosis of sialidosis type 2. Pathogenic NEU1 mutations were detected.

Created: 15 Dec 2016, 4:18 p.m.

PMID:15908988 (Loren et al., 2005) report a case of sialidosis presenting as severe nonimmune hydrops fetalis. The case patient was the first pregnancy for healthy Caucasian parents. Sequence analysis of genomic DNA demonstrated one mutation in each allele of NEUR: a nonsense G45GA mutation, which introduces a premature stop codon [W15X] in the signal peptide, and a splite site mutation, G1022A mutation predicts insertion of 32 additional amino acids that would likely result in a misfolded peptide. The parents were each found to be heterozygous for one of the mutations.

Created: 15 Dec 2016, 4:01 p.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sialidosis; fetal hydrops

Publications

• 11702224
• 23433491
• 15908988

Green List (high evidence)

Personal experience of foetuses with ascites / hydrops in this condition

Created: 22 Nov 2016, 10:06 a.m.

Experience of hydropic foetuses or with severe ascites.

Created: 14 Nov 2016, 5:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sialidosis

Publications

• 15908988, 23433491