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The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia
Cloning the chromosome 19q13 breakpoint in a patient with a reciprocal X;19 chromosome translocation identified mutations in RPS19 in 10 of 40 unrelated DBA patients, including nonsense, frameshift, splice site and missense mutations, as well as two intragenic deletions that suggest a function for R PS19 in erythropoiesis and embryogenesis.
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
Data provide evidence that SPGP is the human bile salt export pump (BSEP), and the product of the orthologous rat gene has been shown to be an effective bile acid transporter in vitro.
A gene mutated in X–linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
The presence of frameshift or missense mutations in seven patients proved that one of these genes is indeed implicated in MTM1, a new family of putative tyrosine phosphatases in man.
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference
The criteria for diagnosis, available treatment options, including corticosteroid and transfusion therapies and stem cell transplantation, and a plan for optimizing patient care are reviewed.
Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
The identification of 10 novel frataxin point mutations, and the detection of a previously described mutation (G130V) in two additional families are reported, suggesting that the only two missense mutations located in the amino‐terminal half of mature fratxin cause an atypical and milder clinical presentation.
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
It is suggested that HAX1 is a major regulator of myeloid homeostasis and underline the significance of genetic control of apoptosis in neutrophil development.
The ribosomal basis of diamond‐blackfan anemia: mutation and database update
Experimental evidence supports the hypothesis that DBA is primarily the result of defective ribosome synthesis, and bioinformatic tools show that gene conversion mechanism is not common in RP genes mutagenesis, notwithstanding the abundance of RP pseudogenes.
A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.
This study demonstrates that direct DNA diagnosis establishes the genotype at the FRAXA-FMR-1 locus, and validate the use of direct DNA testing for fragile X diagnosis as well as for carrier identification and support and complete the established relationships among the DNA results and the cytogenetic, physical, and psychological aspects of the disease.
The origin of the major cystic fibrosis mutation (ΔF508) in European populations
Haplotype data demonstrate that ΔF508 occurred more than 52,000 years ago, in a population genetically distinct from any present European group, and spread throughout Europe in chronologically distinct expansions, which are responsible for the different frequencies of ΔF50 in Europe.
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
It is hypothesized that the 2588G-->C alteration is a mild mutation that causes Stargardt disease only in combination with a severe ABCR mutation, and homozygosity for this and other mild ABCR mutations probably does not result in an STGD phenotype.