The imprinted expression of the IGF2 and H19 genes is controlled by the imprinting control region 1 (ICR1) located at chromosome 11p15.5. This methylation-sensitive chromatin insulator works by binding the zincfinger protein CTCF in a parent-specific manner. DNA methylation defects involving the ICR1 H19/IGF2 domain result in two growth disorders with opposite phenotypes: an overgrowth disorder, the Beckwith– Wiedemann syndrome (maternal ICR1 gain of methylation in 10% of BWS cases) and a growth retardation disorder, the Silver–Russell syndrome (paternal ICR1 loss of methylation in 60% of SRS cases). Although a few deletions removing part of ICR1 have been described in some familial BWS cases, little information is available regarding the mechanism of ICR1 DNA methylation defects. We investigated the CTCF gene and the ICR1 domain in 21 BWS patients with ICR1 gain of methylation and 16 SRS patients with ICR1 loss of methylation. We identified four constitutional ICR1 genetic defects in BWS patients, including a familial case. Three of those defects are newly identified imprinting defects consisting of small deletions and a single mutation, which do not involve one of the CTCF binding sites. Moreover, two of those defects affect OCT-binding sequences which are suggested to maintain the unmethylated state of the maternal allele. A single-nucleotide variation was identified in a SRS patient. Our data extends the spectrum of constitutive genetic ICR1 abnormalities and suggests that extensive and accurate analysis of ICR1 is required for appropriate genetic counseling in BWS patients with ICR1 gain of methylation.
Demars, J., Mansur Ennuri Moftah Shmela, S. Rossignol, J. Okabe, I. Netchine, S. Azzi, S. Cabrol, C. Le Caignec, A. David , Y. Le Bouc, A. El-Osta , C. Gicquel(9-2010)

Background: Patellar luxation (PL) is a common orthopedic affection among farm and pet animals with mostly congenital (environmental and/or genetic) background. Aim: We report here the first observation of lateral PL in Hejazi goats bred in Libya. Methods: Five Hejazi goats aged between 4 months and 2 years with severe hind limb lameness were admitted to Al-Sorouh veterinary clinic in Tripoli during the period from 2016 to 2018. The goats were thoroughly examined clinically and radiographically. Two goats were surgically treated, and the other three cases were not because of either the cost limitation or expected poor prognosis. The surgical intervention involved femoral trochlear sulcoplasty, medial joint capsule imbrication, and tibial tuberosity transposition. Results: The clinical examination showed grade III–IV lateral PL. Radiologically, there were unilateral or bilateral, ventrocaudal, and dorsal PLs. Two cases were referred to surgical correction. One case almost restored the normal movement of stifle joint together with a good general status 1 year postsurgery. However, the surgical treatment was not effective in correcting the luxated patella in the second case. Conclusion: Lateral PL is common among orthopedic affections in Hejazi goats in Libya, and its surgical treatment provided a quite convenient approach. An association between inbreeding and the PL was suggested in those cases. arabic 4 English 29
Taher N. Elmeshreghi, Mansur Ennuri Moftah Shmela, Mouna Abdunnabi Abdunnabi Abdunnabi, Emad M R Bennour(6-2021)

Foot-and-mouth disease viruses are often restricted to specific geographical regions and spread to new areas may lead to significant epidemics. Phylogenetic analysis of sequences of the VP1 genome region of recent outbreak viruses from Libya and Saudi Arabia has revealed a lineage, O-Ind-2001, normally found in the Indian subcontinent. This paper describes the characterization of field viruses collected from these cases and provides information about a new real-time RT-PCR assay that can be used to detect viruses from this lineage and discriminate them from other endemic FMD viruses that are co-circulating in North Africa and western Eurasia.
Ibrahim Eldaghayes(12-2014)