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.

United States, Bones, Gene mutations, Gene mutation, Diseases, Genetic aspects, Face, Musculoskeletal abnormalities, Single nucleotide polymorphisms, Clinical report, Facial muscles

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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.

Ribosomal RNA, Cell cycle, Messenger RNA, Dysplasia

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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.

Genetic transcription, Transcription (Genetics), Phenotype, Phenotypes, Chromosome deletion, Report

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