PRADER-WILLI AND ANGELMAN SYNDROMES
IN THE GREEK POPULATION: A CLINICAL AND
MOLECULAR STUDY
Salavoura K*, Sofocleous C, Mavrou A, Kalaitzidaki M,
Frysira H, Kolialexi A, Zafiriou D, Yapijakis C, Metaxotou E
*Corresponding Author: : Katerina Salavoura, MD, PhD, Department of Immunology and Histocompatibility, “Aghia Sophia” Children’s Hospital, Thivon and Papadiamantopoulou, Athens, Greece; Tel.: +30-210-7467766; Fax: +30-210-7757401; E-mail: Salavoura_Katerina@hotmail.com page: 27
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INTRODUCTION
Prader Willi (PWS) and Angelman (AS) syndromes are disorders with similar cytogenetic etiology, consisting of alterations, mainly deletions, in the critical 15q11-13 region. However, the two syndromes have different etiology and present with a completely different phenotype.
Prader Willi syndrome, the most common genetic cause of obesity, is a complex disorder, characterized by infantile hypotonia, abnormal eating behavior leading to obesity in late childhood, hypogonadism, mental retardation and some craniofacial characteristics [1]. Deletions are detected in the 15q11-13 region of the paternally derived chromosome in 75% of the cases and maternal uniparental disomy (UPD) is observed in most of the remaining cases [2]. Prader Willi syndrome is believed to be a contiguous gene syndrome and many candidate genes are implicated in its development [2]. One of them, SNRPN (small nuclear ribonucleoprotein polypeptide N), encodes a transcription factor which modifies the expression of several genes [3], and is maternally imprinted in the human brain [4].
Developmental delay and absence of speech, broad ataxic gait, inappropriate laughter, spasms and certain dysmorphic features characterize AS [5]. Deletions in the 15q11-13 region of the maternally derived chromosome are detected in 65% of patients, while paternal disomy is rarely observed (2-3% of cases) [6]. Recently, in some of the remaining cases, point mutations have been detected in the UBE3A gene, which is probably involved in the pathogenesis of AS [6,7]. UBEA3 is imprinted in the brain [8] and encodes an E6-AP ubiquitin-protein ligase which is critical in the proteolytic pathways of the cell [7].
In the present report, 171 Greek patients referred for PWS and AS, were examined clinically and analyzed using cytogenetic and molecular detection methods.
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