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SLC35D1, 1-BP DEL, 125A AND Schneckenbecken dysplasia

Significance: Pathogenic
ClinVar: RCV000001182

Variant: SLC35D1, 1-BP DEL, 125A

Type: Variant
Allele: SLC35D1, 1-BP DEL, 125A 16162
Gene:
Type: Deletion
References: OMIM: 610804.0001

Condition

Disease: Schneckenbecken dysplasia

Citation

    In a patient with Schneckenbecken dysplasia (SHNKND; 269250), previously described by Nikkels et al. (2001), Hiraoka et al. (2007) identified a homozygous 1-bp deletion (125delA) in exon 1 of the SLC35D1 gene that produced a premature stop codon (Ser42fsTer9). The patient was a male fetus of consanguineous Mediterranean parents with severe hydrops and short-limb dwarfism discovered on ultrasound at 20 weeks' gestation. Pregnancy was terminated at 22 weeks' gestation. Radiographs showed typical findings of Schneckenbecken dysplasia, including platyspondyly with oval-shaped vertebral bodies, extremely short long bones with dumbbell-like appearance, and small ilia with snail-like appearance.
PMID:17952091