Balkan Journal of Medical Genetics

GENE MAPPING IN AN ANOPHTHALMIC PEDIGREE OF A CONSANGUINEOUS PAKISTANI FAMILY OPENED NEW HORIZONS FOR RESEARCH
Saleha S, Ajmal M, Zafar S, Hameed A
*Corresponding Author: Dr. Shamim Saleha, Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat 26000, Khyber Paktunkhwa, Pakistan. Tel: +92-922-5291-4659. Cell: +92-333-964-2532. Fax: +92-922-554-556. E-mail: shamimsaleha@yahoo.com
page: 77

INTRODUCTION

Clinical anophthalmia is a rare genetic disease of the eye and phenotype refers to the absence of ocular tissue in the orbit of eye [1-3]. Congenital clinical anophthalmia is commonly bilateral [4] but it may also be unilateral [5]. Often anophthalmia is part of a syndrome and is accompanied by other brain anomalies [6,7]. Clinically, in the absence of apparent ocular tissue, congenital anophthalmia and extreme microphthalmia (A/M), i.e., the presence of a small eye, are considered the same, because computerized tomography (CT) scan investigations indicated residual neuroectoderm in the orbit of the eye in some cases [8]. Clinical anophthalmia exhibits different patterns of genetic inheritance, i.e. autosomal dominant, autosomal recessive and X-linked recessive [4,9]. Studies on autosomal recessive mode of inheritance of anophthalmia have rarely been reported [1,10]. Similarly, previous research studies have also provided rare evidence about consanguinity association with congenital anophthalmia [8,11]. Anophthalmia/microphthalmia cause a considerable percentage of congenital visual impairments in children [12]. Epidemiological data has reported that the prevalence of congenital anophthalmia is three in 100,000. However, other evidence estimated the combined prevalence of congenital anophthalmia and microphthalmia up to three in 100,000 [13,14]. In developed countries, a prevalence of 0.2-0.4 per 10,000 births has been reported [15-17]. Epidemiological studies have also investigated some risk factors for anophthalmia including late maternal age, multiple births [15,16], low birth weight and premature birth complications [18]. Epidemiological studies have reported that both genetic and environmental factors cause anophthalmia and microphthalmia, however, environmental factors account for a lesser number of cases [4]. Genetic linkage analysis studies have identified the same loci and mutations in the same genes for both clinical anophthalmia and extreme microphthalmia [4]. It was considered that congenital A/M showed genetic heterogeneity due to linkage of a large number of loci with them. Similarly, mutations in several well-defined human genes such as CHX10, RAX, SOX2 and OTX2, are also associated with heritable forms of clinical anophthalmia and severe microphthalmia [9]. In the Khyber Pakhtunkhwa region of Pakistan, different Pashtoon tribes are prominent ethnic groups and due to cultural impacts, they have very strong reservations regarding marriages outside their tribal boundaries, as they believe that dilution of tribal blood may result in losing their specific tribal characteristics. Moreover, they practice consanguineous marriages to strengthen family ties and to maintain the family structure and property [19]. The causes of congenital inherited diseases in Khyber Pakhtunkhwa are maternal illiteracy, mother’s age to be less than 20 years at the birth of first child, birth interval of less than 18 months [20], and the influencing culture factor to have more children, particularly sons, until menopause. The lack of public awareness toward prenatal diagnosis or prevention of inherited disease and health risks associated with consanguineous unions, is limited. Many people do not agree with medical explanations of a genetic mode of disease inheritance, even in case where there is an affected child. Because of this, inherited diseases are frequently observed in Khyber Pakhtunkhwa that follow Mendelian patterns of inheritance, and the molecular bases are not known. In present study, a consanguineous Pakistani family of the Pashtoon ethnic group with isolated clinical anophthalmia in Khyber Pakhtunkhwa was investigated.

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