<scp>OCA5,</scp> a novel locus for non‐syndromic oculocutaneous albinism, maps to chromosome 4q24

Kausar, Tasleem; Bhatti, M. Abuzar; Ali, M.; Shaikh, RS; Ahmed, Zaheer

doi:10.1111/cge.12019

Cited by 90 publications

(70 citation statements)

References 8 publications

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“…Recently OCA5 was detected in members of a Pakistan family due to consanguinity. 9 Eumelanin (brown melanin) provides protection both against sunlight and against oxidative stress-induced DNA damage. In light-skinned persons, the extent of the sunlight-induced DNA damage exceeds the capacity of cellular DNA repair mechanisms with increases risk of malignant transformation.…”

Section: Discussionmentioning

confidence: 99%

Premalignant and malignant changes of skin in a patient with oculocutaneous albinism: multiple actinic keratosis and squamous cell carcinoma

2018

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Pigmentation of skin is a feature which is governed by multiple factors including the number of melanocytes, their metabolic activity of the melanocytes, the melanogenic activity of the melanosomes and lastly the morphology and differentiation of the melanosomes “Squamous cell carcinoma” (SCC) of sun-exposed skin is the most frequently observed malignancy among Albinos. It is ultimately due to lack of Eumelanin which guards against both the sunlight as well as oxidative stress-induced DNA damage. A 41 year old albino male patient presented with multiple asymptomatic raised skin lesions of different morphology and dimensions over scalp, neck, behind right ear and back with duration of 7 years. The initial lesion developed as a small papule over scalp which gradually progressed to present size and later appeared before the right ear, neck and lastly over the back. On examination, the initial lesion over scalp was verrucous plaque with adherent crusting, while other lesions were indurated, non-tender ulcers with irregular margins and punched out edges. There are few whitish raised scaly papules and plaques over the back. Routine investigations were within normal limits. Histopathology findings from the neck revealed squamous epithelium with tumour cells infiltrating the underlying stroma. Tumour cells showed pleomorphism, increased N:C ratio, hyperchromatic nuclei, prominent nucleoli and keratin pearls. Histopathology findings from the scaly lesion over the back revealed mild hyperkeratosis with dysplasia of the basal keratinocytes and prominent solar elastosis in the superficial dermis. Based on clinical and histopathogical findings, diagnosis of multiple SCC with actinic keratosis was made. Patient was referred to oncosurgeon for further management. Early detection and prompt treatment of the disease is required to reduce the spread to other parts of the body along with photo-protection all throughout life.

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Section: Discussionmentioning

confidence: 99%

Premalignant and malignant changes of skin in a patient with oculocutaneous albinism: multiple actinic keratosis and squamous cell carcinoma

2018

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“…the more common forms: OCA1, OCA3 and OCA4 or more recently described: OCA5 (ref. 11 ), OCA6 (ref. 12 ) and OCA7 (ref.…”

Section: Discussionmentioning

confidence: 99%

Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication

Kucharczyk¹,

Jezela‐Stanek²,

Gieruszczak‐Białek³

et al. 2015

BIOMED PAP

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Background. Chromosomal duplications involving 17p13.3 have recently been defined as a new distinctive syndrome with several diagnosed patients. Some variation is known to occur in the breakpoints of the duplicated region and, consequently, in the phenotype as well. Aims. We report on a patient, the fifth to our knowledge, a 4-year-old girl with a pure de novo subtelomeric 17p13.2-pter duplication. She presents all of the facial features described so far for this duplication and in addition, a unilateral palmar transversal crease and oculocutaneous albinism which has not been reported previously. Methods. A detailed molecular description of the reported aberration and correlation with the observed phenotypical features based on a literature review. We discuss the possible molecular etiology of albinism in regard to the mode of inheritance. Conclusion.The new data provided here may be useful for further genotype correlations in syndromes with oculocutaneous albinism, especially of autosomal dominant inheritance.

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“…The 3 other forms of OCA are very rare. There is a single report till date for OCA5 in a consanguineous Pakistani family [Kausar et al, 2013]. A few distinct cases of SLC24A5 mediated OCA6 -one from India, one from China, two patients from France, three from Portugal, one from Belgium and one from Syria, have been reported till date [Mondal et al, 2012;Wei et al, 2013;Fanny et al, 2014].…”

Section: Identitymentioning

confidence: 99%

Oculocutaneous Albinism

Ray¹,

Sengupta²,

Ganguly³

2017

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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OCA5, a novel locus for non‐syndromic oculocutaneous albinism, maps to chromosome 4q24

Cited by 90 publications

References 8 publications

Premalignant and malignant changes of skin in a patient with oculocutaneous albinism: multiple actinic keratosis and squamous cell carcinoma

Premalignant and malignant changes of skin in a patient with oculocutaneous albinism: multiple actinic keratosis and squamous cell carcinoma

Oculocutaneous albinism in a patient with 17p13.2-pter duplication - a review on the molecular syndromology of 17p13 duplication

Oculocutaneous Albinism

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