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Turkish Society for Pediatric Endocrinology and Diabetes
A Novel Pathogenic DNA Variation in the OCRL1 Gene in Lowe Syndrome [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2011; 3(1): 29-31 | DOI: 10.4274/jcrpe.v3i1.06

A Novel Pathogenic DNA Variation in the OCRL1 Gene in Lowe Syndrome

Enver Şimşek1, Tülay Şimşek2, Yıldız Dallar3, Önder Can3, Patrick J Willems4
1Division Of Pediatric Endocrinology, Department Of Pediatrics, School Of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey
2Department Of Glaucoma, Ulucanlar Eye Research And Training Hospital, Ankara, Turkey
3Department Of Pediatrics, Ankara Research And Training Hospital, Ankara, Turkey
4Gendıa Genetic Diagnostic Network, B-2020 Antwerp, Belgium

The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by congenital cataracts, renal tubular dysfunction, cognitive problems and maladaptive behavior. The syndrome is caused by pathogenic DNA variations in the X-linked OCRL1 gene. A 24-month-old boy was referred to our hospital with delayed motor milestones, hypotonia, involuntary purposeless movements of hands and feet, congenital cataract, severe feeding difficulties, and failure to thrive. Physical examination at the age of 24 months revealed a body weight of 7350 g (-5.1 SDS). Length was 71 cm (-5.1 SDS) and head circumference 45 cm (-3.9 SDS). He had deep-set small eyes, frontal bossing, flat occiput, parietal prominence, bilateral congenital cataract, cryptorchid left testis, joint hypermobility, decreased muscle tone, and hyporeflexia. Biochemical analysis revealed the characteristic findings of renal Fanconi syndrome. Genetic analysis showed a novel pathogenic DNA variation (c.1528C>T) in exon 15 of the OCRL1 gene. Clinical findings and genetic analysis confirmed the diagnosis of OCRL syndrome.

Keywords: Oculocerebrorenal syndrome,novel pathogenic DNA variation

Enver Şimşek, Tülay Şimşek, Yıldız Dallar, Önder Can, Patrick J Willems. A Novel Pathogenic DNA Variation in the OCRL1 Gene in Lowe Syndrome. J Clin Res Pediatr Endocrinol. 2011; 3(1): 29-31
Manuscript Language: English
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