novel variant in the endothelin-converting enzyme-like 1 [ECEL1] gene in an Emirati child

Objective: The aim of this work was to report a case of an Emirati child who presented with developmental delay and multiple congenital abnormalities that are consistent with distal arthrogryposis type 5D

Clinical Presentation and Intervention: The clinical presentation comprised contractures of the shoulders, elbows, and knees in addition to camptodactyly and neck pterygium. The facial dysmorphic features noted include ptosis and microretrognathia. Importantly, left orchidopexy was also observed and corrected surgically. Whole exome sequencing revealed that the patient is homozygous for the novel c.1184+1G>T variant in endothelin-converting enzyme-like 1 [ECEL1]

Conclusion: This is a case of a novel homozygous splice site mutation in the ECEL1 gene in a child with a phenotype consistent with distal arthrogryposis type 5D. The child was born to consanguineous Emirati parents heterozygous for the novel ECEL1 mutation

Marinesco-sjogren syndrome in an Emirati child with a novel mutation in SIL1 affecting the 5' untranslated region

Objective: The aim of this study was to report clinical and molecular findings in an Emirati child with Marinesco-Sjogren syndrome born to consanguineous parents

Clinical Presentation and Intervention: The child presented with developmental delay, ataxia, bilateral cataracts, and dysmorphic craniofacial features, along with cerebellar atrophy. Sequencing of the SIL1 gene revealed a novel homozygous large indel mutation that was predicted to abrogate part of the 5' untranslated region [UTR] and the first 30 amino acids of the protein

Conclusion: This was a case of mutation in SIL1 that affected the 5' UTR, translation initiation site and the endoplasmic reticulum-targeting signal sequence. Further studies will be needed on the functional delineation of the mutation. aracts, and intellectual disability [1] . Although these are the main symptoms, there are a range of other clinical features associated with this condition in some families, including hypogonadotropic hypogonadism, skeletal abnormalities, and microcephaly [2]. The only gene known so far to be associated with MSS, SIL1, was discovered by two independent teams simultaneously [2, 3]. SIL1 plays a vital role in the translocation of proteins into the endoplasmic reticulum [ER]. Studies in mouse models have shown a function for SIL1 as a nucleotide exchange factor for the ER chaperone protein BiP, as well as in ER stressinduced apoptotic signaling and the ER-associated degradation [ERAD] pathway, again via its interaction with BiP [4, 5] . Hence, we report a consanguineous Emirati family affected with MSS with a novel mutation in the SIL1 gene

Detection of catechol-O-methyltransferase Val158Met polymorphism by a novel PCR-RFLP based method

The transition from G to A at nucleotide 21881 of the human catechol-O-methyltransferase [COMT] gene producing a functional genetic polymorphism [Val158Met], has been shown to render an enzyme with reduced activity that has been associated with psychiatric disorders. A new PCR-RFLP method for the detection of this polymorphism is described. The method utilizes the same restriction enzyme commonly used for the PCR-RFLP detection of Val158Met, NlaIII. However, the SNP-containing fragment to be amplified was selected as to extremely simplify the restriction fragments pattern generated resulting in a faster separation on 2.5% agarose gel electrophoresis. The presence of a valine or methionine allele is associated with a 108bp or 72bp fragment, respectively. Electrophoresis conditions were optimized to decrease separation time and distance down to 16 minutes and 3 cm, respectively. The method has been successfully applied to determine allele frequencies for the COMT gene in a novel population from Syria and were found to be 48% and 52% for the Val allele and Met allele, respectively