| CASE REPORT |
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| Year : 2017 | Volume
: 12
| Issue : 4 | Page : 360-362 |
Novel RAB3GAP1 mutations causing Warburg Micro syndrome in two Italian sisters
Pasquale Loiudice1, Debora Napoli2, Maria Cristina Ragone1, Marco Nardi1, Giamberto Casini1
1 Ophthalmology Unit, Department of Surgical, Medical, Molecular and Critical Area Pathology, University of Pisa, Italy
2 BioSNS, Scuola Normale Superiore di Pisa, Pisa, Italy
Correspondence Address:
Dr. Pasquale Loiudice
Department of Surgical, Medical, Molecular and Critical Area Pathology, University of Pisa, Via Paradisa 2, 56124 Pisa, Italy
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/JPN.JPN_45_17
This report details two novel RAB3GAP1 mutations causing Warburg Micro syndrome, a rare autosomal recessive disorder characterized by multiple organ abnormalities involving the ocular, nervous, and endocrine systems. Two Italian sisters were referred to our department for the assessment of congenital bilateral cataracts. They also presented with microphthalmia, postnatal microcephaly, severe developmental delay, and hypotony. Perinatal investigations were negative for any toxins or infectious diseases during pregnancy, including toxoplasmosis, rubella, cytomegalovirus, and herpes virus. Genetic tests were performed on samples from probands and their parents, targeting a total of 114 genes. After sequence analysis of RAB3GAP1, two heterozygous changes were identified in both sisters: C.519G>A, p.(Trp173Ter) and c.2486T>A, p.(Leu829Ter). The identified mutations have not previously been described in the literature, but they affect critical regions of the gene, suggesting a legitimate causal relationship between the genetic alterations and the clinical features of the patients.
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