Rare Diseases Symptoms Automatic Extraction

Two Novel COH1 Mutations in an Italian Patient with Cohen Syndrome.

[cohen syndrome]

Cohen syndrome (CS) is an autosomal recessive disease caused by mutations in the COH1 gene. It is characterized by intellectual disability, hypotonia, joint hyperlaxity, severe myopia, characteristic facial dysmorphisms and, in some cases, intermittent isolated neutropenia. We investigated an Italian patient with CS together with his family. Genetic analysis disclosed 2 novel mutations: the first is an intronic mutation (c.8697-9A>G) creating a new splice site 8 nucleotides upstream, and the second is a duplication of 1 base (c.10156dupA) generating a premature stop codon. The compound heterozygous mutations explain the proband's phenotype and improved the knowledge of genotype-phenotype correlation.

Diseases presenting "neutropenia" symptom

  • allergic bronchopulmonary aspergillosis
  • cohen syndrome
  • dedifferentiated liposarcoma
  • dentin dysplasia
  • erdheim-chester disease
  • esophageal squamous cell carcinoma
  • kindler syndrome
  • liposarcoma
  • oculocutaneous albinism
  • omenn syndrome
  • papillon-lefèvre syndrome
  • severe combined immunodeficiency
  • triple a syndrome
  • waldenström macroglobulinemia
  • wiskott-aldrich syndrome

This symptom has already been validated