1,720,991 research outputs found
OCRL mutation analysis in Italian patients with Lowe syndrome
No full textThe oculocerebrorenal syndrome of Lowe (OCRL, also called OCRL1) is a rare X-linked
disorder characterized by major abnormalities of eyes, nervous system, and kidneys. The
gene responsible for OCRL was identified by positional cloning and encodes an inositol
polyphosphate-5-phosphatase. We performed the molecular analysis in 9 Italian patients and
26 relatives and we detected the mutations in all the examined patients. Eight mutations out
of nine had never been described and consisted of truncating mutations (frameshift,
nonsense, splice site and genomic deletion), and missense mutations. The mutations were
distributed in the second half of the gene as previously described in other populations. In
three cases the mutations were absent in the mothers confirming the occurrence of novel
mutations in this disorder. Our results on the Italian population are similar to the data
previously obtained in other populations
Responsiveness to oral iron and ascorbic acid in a patient with IRIDA
No full textMutations in TMPRSS6 gene cause iron-refractory iron deficiency anemia, a rare autosomal recessive disorder characterized by hypochromic microcytic anemia not responsive to oral iron therapy and partially responsive to parenteral iron administration. Here we report a female infant homozygous for a loss of function mutation in TMPRSS6 gene, who responded to oral iron therapy when supplemented with ascorbic acid
Triplet-Primed PCR Is More Sensitive Than Southern Blotting-Long PCR for the Diagnosis of Myotonic Dystrophy Type1
No full textGenetic testing of myotonic dystrophy type 1 (DM1) is very important because it enables the diagnosis and indicates about the severity of the disease. Mutation analysis is based on the detection of the number of CTG triplets in the 3' untranslated region of the myotonic dystrophy protein kinase (DMPK) gene. Sometimes it could be complicated by the presence of different patterns of repeat interruptions in the 5' and 3' ends of the expanded alleles recently described in about 3% to 5% of patients. To make molecular diagnosis easier and faster, the use of triplet-primed PCR (TP-PCR) for the detection of expansions in DM1 and other dynamic mutation diseases was proposed. Here we present the results of a retrospective study performed by TP-PCR on 100 subjects previously analyzed by Southern blotting-long PCR
Turner syndrome mosaicism: an unusual case with a de novo large dicentric marker chromosome: mos 45,X/46,X, ter rea(X;X)(p22.3;p22.3)
No full text
Cerebral cavernous malformations and unilateral moyamoya in a patient with a new mutation in the KRIT-1 /CCM1 gene.
No full textCerebral cavernous malformations (CCMs) are vascular anomalies with dilated, thin-walled capillaries. The disease can occur in sporadic or autosomal dominant-inherited forms (familiar forms), with incomplete penetrance and multiple lesions [1].
Moyamoya disease (MMD) is a dynamic cerebrovascular disease [2] where the outgrowth of small collateral vessels produces the radiological image of a hazy ‘puff of smoke', giving its name to the disease. According to the diagnostic criteria, MMD is characterized by stenosis or occlusion of the terminal portion of the Internal Carotid Artery (ICA) and/or the proximal portions of the anterior or the middle cerebral arteries (ACAs, MCAs), with irregular vascular networks near the stenosis. The disease is defined ‘probable' or ‘unilateral' MMD when findings are unilateral and ‘definite' MMD, when findings are bilateral [3]. Unilateral MMD occurs in almost 10-15% of all MMD: in children it usually extends bilaterally within 1-2 years, otherwise the disease tends to remain unilateral in adults [4]. We report here a case of cerebral cavernous angiomatosis associated with unilateral MMD in a patient with a first-ever described mutation in the KRIT1/CCM1 gene
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