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NM_015139.2(SLC35D1):c.932G>A (p.Trp311Ter) AND Schneckenbecken dysplasia

Significance: Pathogenic
ClinVar: RCV000001183

Variant: NM_015139.2(SLC35D1):c.932G>A (p.Trp311Ter)

Type: Variant
Allele: NM_015139.2(SLC35D1):c.932G>A (p.Trp311Ter) 16163
Gene:
Type: single nucleotide variant
Location: Chr1: 67474795 - assembly GRCh37
Chr1: 67009112 - assembly GRCh38
References: dbSNP: 137853111
OMIM: 610804.0002

Condition

Disease: Schneckenbecken dysplasia

Citation

    In a patient with Schneckenbecken dysplasia (SHNKND; 269250), Hiraoka et al. (2007) identified compound heterozygosity for 2 mutations in the SLC35D1 gene: a 932G-A transition in exon 11, resulting in a trp311-to-ter (W311X) substitution, and a splice site mutation, IVS7+1G-T (610804.0003). The IVS7+1G-T mutation causes abnormal splicing, which produces a premature stop codon. The predicted truncated protein lacks the C-terminal 143 amino acids and contains 7 substituted amino acids. The female infant was the product of a 36-week uncomplicated pregnancy from unrelated parents. At delivery, she was noted to be hydropic with a narrow chest and protuberant abdomen with a large umbilical hernia. The limbs were very short with bilateral clubfeet. She died of respiratory insufficiency in the immediate neonatal period.
PMID:17952091