Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1

Article Abstract:

High-density single-nucleotide polymorphism arrays are used to perform homozygosity mapping in five Sardinian and three Turkish families with Crisponi syndrome and a critical region on chromosome 19p12-13.1 is identified. It is found that neither type nor the location of the CRLF1 mutations points to a phenotype/genotype correlation that accounts for the most severe phenotype in Crisponi syndrome.

User Contributions:

Comment about this article or add new information about this topic:

Comment:  (50-4000 characters)

Name:

E-mail:

Security Code:

Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia

Article Abstract:

The genotype-phenotype correlation is studied. It concludes a strong correlation between the decrease in rRNA cleavage and the degree of bone dysplasia, whereas reduced mRNA cleavage and thus cell-cycle impairment predicts the presence of immuno deficiency, hematological abnormalities, hair hypoplasia and increased cancer risk.

User Contributions:

Comment about this article or add new information about this topic:

Comment:  (50-4000 characters)

Name:

E-mail:

Security Code:

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions

Article Abstract:

A novel heterozygous missense mutation, H194Q, in a familial case of Shprintzen syndrome is reported. The analysis has shown that T-box transcription factor gene (TBX1) gain-of-function mutations can result in the same phenotype spectrum as haploinsufficiency caused by loss-of-function mutations or deletions.

User Contributions:

Comment about this article or add new information about this topic:

Comment:  (50-4000 characters)

Name:

E-mail:

Security Code: