PMCC PMCC

Search tips
Search criteria

Advanced
Results 1-7 (7)
 

Clipboard (0)
None
Journals
Authors
more »
Year of Publication
1.  Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases 
Journal of Medical Genetics  2005;43(4):378-381.
Semaphorins are a large family of transmembrane proteins. The gene for SEMA4A encodes a transmembrane protein comprising 760 amino acids. To investigate its association with human retinal degeneration, mutation screening of the SEMA4A gene was carried out on 190 unrelated patients suffering from a variety of eye diseases. We report the first observation of the involvement of SEMA4A gene mutations causing retinitis pigmentosa (RP) and cone rod dystrophy (CRD). We screened the DNA of 135 patients with RP, 25 patients with CRD, and 30 with LCA using SSCP and direct DNA sequencing for mutations in the SEMA4A gene. Two mutations, p.D345H and p.F350C, were observed only in affected patients; they were not observed in any of the normal members or the 100 control subjects. Both mutations identified occur in the conserved semaphorin domain. Multiple sequence alignments using Clustal analysis showed that R713Q is a conserved substitution and D345H is a semi‐conserved substitution. We conclude that these mutations are a cause of various retinal degenerations.
doi:10.1136/jmg.2005.035055
PMCID: PMC2563224  PMID: 16199541
SEMA4A; retinal degeneration; retinitis pigmentosa; cone rod dystrophy
2.  Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa 
Journal of Medical Genetics  2005;42(5):436-438.
doi:10.1136/jmg.2004.024281
PMCID: PMC1736063  PMID: 15863674
3.  Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy 
Journal of Medical Genetics  2003;40(8):616-619.
doi:10.1136/jmg.40.8.616
PMCID: PMC1735563  PMID: 12920076
4.  Reply 
Journal of Medical Genetics  1998;35(4):350.
PMCID: PMC1051304
5.  Unusual traits associated with Robinow syndrome. 
Journal of Medical Genetics  1997;34(9):736-740.
We report on some members of two unrelated families showing the characteristic features of Robinow syndrome. In a consanguineous Kuwaiti family, the index case with Robinow syndrome showed some unusual features including severe IUGR, laxity of ligaments, hyperextensible joints, redundant skin folds, severe normocytic anaemia, repeated infection, increased percentage of total T cells and CD4 positive population, reduced percentage of CD8 positive cells, and EMG abnormality. In a Pakistani family with a high degree of multigenerational consanguinity, a single case with the Robinow phenotype also had congenital heart disease, mainly involving the right side of the heart, with pulmonary stenosis, tricuspid atresia, ASD, VSD, double outlet right ventricle, and right atrial isomerism. This report suggests that the disease profile of Robinow syndrome may be extended to accommodate the unusual traits mentioned above. The association of the Robinow phenotype with congenital heart disease in case 2 of this report is consistent with the previously reported finding that congenital heart disease, particularly involving the right side of the heart, may be a prominent component of Robinow syndrome in a subset of patients.
Images
PMCID: PMC1051057  PMID: 9321759
6.  Mild sickle-cell anaemia in Iran associated with high levels of fetal haemoglobin. 
Journal of Medical Genetics  1977;14(3):168-171.
Sixteen subjects, with sickle-cell anaemia, all Iranians (ages 3 to 56 years), with very mild symptomatology are reported. Some of the subjects had been totally asymptomatic. Splenomegaly was noted in 9 cases. There was an increase in the mean level of fetal haemoglobin (18%); this is the probable explanation for the mild phenotype. In 29 subjects with sickle-cell trait, the level of HbF was also significantly raised as compared with normal (1-6% vs. 0-6%). The mechanism of increased synthesis of HbF is unknown. The findings are similar to those reported in the Shiite Moslems of Saudi Arabia suggesting that in these populations there is a genetically-determined ability to produce high levels of Hb F in the presence of the sickle-cell gene.
PMCID: PMC1013550  PMID: 881705

Results 1-7 (7)