Rare Diseases Symptoms Automatic Extraction

Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II.

[dentin dysplasia]

Dentinogenesis imperfecta (DGI) type II (OMIM # 125490) is an inherited disorder affecting dentin. Defective dentin formation results in discolored teeth that are prone to attrition and fracture. To date, several mutations have been described in the dentin sialophosphoprotein (DSPP) gene, causing DGI types II and III and dentin dysplasia type II. DSPP encodes two proteins: dentin sialoprotein (DSP) and dentin phosphoprotein (DPP). Here, we describe a mutational analysis of DSPP in seven Finnish families with DGI type II. We report two mutations and five single nucleotide polymorphisms. In one family we found a mutation that has been described earlier in families with different ethnicity, while in six families we found a novel g.1194C>A (IVS2-3) transversion. Bioinformatic analysis of known DSPP mutations suggests that DGI type II is usually caused by aberration of normal splicing.

Diseases presenting "single nucleotide polymorphisms" symptom

  • adrenomyeloneuropathy
  • alpha-thalassemia
  • benign recurrent intrahepatic cholestasis
  • congenital adrenal hyperplasia
  • dentin dysplasia
  • esophageal adenocarcinoma
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • familial hypocalciuric hypercalcemia
  • hirschsprung disease
  • neonatal adrenoleukodystrophy
  • oculocutaneous albinism
  • oligodontia
  • pendred syndrome
  • primary effusion lymphoma
  • scrub typhus
  • triple a syndrome
  • waldenström macroglobulinemia

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