Rare Diseases Symptoms Automatic Extraction

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.

[cohen syndrome]

We have earlier described a syndrome characterized by microcephaly, cutis verticis gyrata, retinitis pigmentosa, cataracts, hearing loss and mental retardation (Mendelian inheritance in man (MIM) no: 605685) in two brothers from a non-consanguineous Lebanese family. In view of the rarity of the disorder and the high rate of inbreeding in the Lebanese population, we assumed an autosomal recessive trait inherited from a common ancestor. A genomewide scan was performed. The single locus on the long arm of chromosome 8 that showed homozygosity by descent comprised the gene responsible for Cohen syndrome (CS), VPS13B. We then sequenced VPS13B in the patients and found a homozygous splice site mutation. Several possible explanations for the overlap between CS and the clinical features observed in our patients are discussed. Our data highlight the potential of high-resolution homozygosity mapping in small populations with a high rate of inbreeding.

Diseases presenting "microcephaly" symptom

  • 22q11.2 deletion syndrome
  • alpha-thalassemia
  • coats disease
  • cohen syndrome
  • congenital toxoplasmosis
  • dentin dysplasia
  • hirschsprung disease
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • monosomy 21
  • phenylketonuria
  • pyruvate dehydrogenase deficiency
  • severe combined immunodeficiency
  • wolf-hirschhorn syndrome

This symptom has already been validated