Roberts Syndrome: Clinical and Cytogenetic Studies in 8 Egyptian Patients and Molecular Studies in 4 Patients with Genotype/phenotype Correlation

By Ismail, S.; Essawi, M. et al. | Genetic Counseling, July 1, 2016 | Go to article overview

Roberts Syndrome: Clinical and Cytogenetic Studies in 8 Egyptian Patients and Molecular Studies in 4 Patients with Genotype/phenotype Correlation


Ismail, S., Essawi, M., Sedky, N., Hassan, H., Fayez, A., Helmy, N., Shehab, M., Farouk, D., Elruby, M., Otaify, G., Eldarsh, A., Hosny, L., Gaber, K., Elhadidi, S. M. A., Aglan, M. S., Temtamy, S. A., Genetic Counseling


INTRODUCTION

Roberts syndrome (RBS) is an autosomal recessive disorder (MIM 268300) (25). Although it was initially described by John Roberts in 1919 (29) in 3 affected siblings of a first cousin Italian couple, it was identified as a distinct disorder and given the nomenclature by Temtamy (35) in her PhD thesis. Temtamy and Loutfy (38) reported the first Egyptian patient in 1970.

Hermann and Opitz (14) reported similar but milder malformations which were referred to as SC phocomelia syndrome. Temtamy in 1974 was the first to suggest that RS and SC phocomelia syndromes are the same entity (25). Van Den Berg and Francke (40) also concluded that both syndromes represent the same entity. The "two" syndromes were universally accepted as one entity upon identification that "both" disorders are due to ESC02 mutations (21,30). Goh et al. (9) considered the Roberts syndrome/SC phocomelia syndrome as a spectrum.

Pre and postnatal growth retardation, craniofacial abnormalities and bilateral symmetrical limb reduction are the cardinal clinical characterization of RBS. RBS was known as a very rare syndrome; no accurate estimates of prevalence have been published. Approximately 150 individuals of diverse racial and ethnic backgrounds have been reported with an estimated prevalence of 0.62 per 100,000 (10,11).

The characteristic cytogenetic finding is that chromosomes present with absence of the primary constriction at the centromeric region with puffing or repulsion localized at their heterochromatin especially of chromosomes 1,9,16, the acrocentric chromosomes and the distal segment of Y chromosome (17). Premature centromeric separation (PCS) or heterochromatin repulsion (HR) constitutes the major diagnostic cytogenetic finding in RBS. Tomkins et al. (39) described it as centromere puffing. German (8) introduced the term premature centromeric separation (PCS).

Xu et al. (44) reported that all living organisms go through cycles of replicating their genetic information and then dividing the copies between two new cells, such cyclic process requires a protein complex known as cohesion. Mutation in the genes that encode cohesion and its regulatory factors are associated with developmental disorders such as Roberts syndrome and Cornelia de Lange syndrome (19). In RBS syndrome, the lack of cohesion acetylation contributes to nucleolar dysfunction and translational inhibition.

Roberts syndrome is caused by mutation in the ESC02 gene (8p21.1) (establishment of cohesion 1 homolog 2) which encodes for a 601 amino acid protein belonging to the Ecol/Ctt7 family. ESC02 mutation leads to delayed cell division, increased apoptosis and impaired cell proliferation (16,31,33,42).

Herein, we report on 8 new Egyptian patients from 7 unrelated consanguineous families, they exhibited the cardinal manifestations of RBS. Diagnosis was made mainly on basis of clinical, radiological and cytogenetic findings. Cytogenetic studies were done for all patients and molecular studies were carried out for 4 available patients to identify the mutation and to investigate genotype/phenotype correlation.

PATIENTS AND METHODS

The current study included 8 patients from 7 unrelated consanguineous families, they presented to the Limb Malformations and Skeletal Dysplasia Clinic, Centre of Excellence for Human Genetics, National Research Centre.

Informed consent regarding all laboratory investigations and photography were obtained from parents or guardians according to the guidelines of the Medical Research Ethics committee of the National Research Centre.

Patients were subjected to detailed history taking, pedigree construction, full clinical examination with particular emphasis on limb anomalies and thorough investigations including skeletal survey, echocardiography, pelvi-abdominal ultrsonography and MR1 brain. Intelligence Quotient was evaluated by Wechsler, 1997 (43). Phenotypic severity was assessed using the RS score of Van Den Berg and Francke (40) for 4 patients. …

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