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

Incidence of Down syndrome in Dubai, UAE

To describe incidence of Down syndrome in Dubai, United Arab Emirates [UAE]. A total of 63,398 newborn babies in Dubai [24,250 UAE nationals and 39,148 non-UAE] during a 5-year period of 1999-2003 were routinely examined by experienced nurses, neonatologists, pediatricians and/or general practitioners for symptoms of Down syndrome. Those suspected with Down syndrome were referred to the cytogenetic laboratory for karyotyping. A total of 141 cases were confirmed cytogenetically as Down syndrome. Of these, 139 were trisomy 21 and of the remaining 2, 1 was a translocation and the other a mosaic. Theoverall incidence of Down syndrome in Dubai was 1/449 live births [2.2 per 1,000]; 1/319 live births [3.13 per 1,000] among UAE nationals and 1/602 live births [1.66 per 1,000] among non-UAE nationals. The mean maternal age of UAE national mothers was 33.48 ' 8.08, with 41.66% of the mothers being in the advanced maternal age group [>35 years]. The higher incidence of Down syndrome among UAE nationals is comparable to incidences reported for other Arab populations in the Middle Eastern region. Advanced maternal age, with mothers bearing children until their 50s and higher parity, appear to be the major contributing factors for the increased incidence. The study indicates the need to provide efficient genetic counseling and to introduce an effective antenatal screening program and prenatal diagnostic services to reduce the psychological and genetic burden on the families and community

46,X,psu idic [pter-> q26:: q26-> pter] / 45,X mosaicism in a patient with premature ovarian failure

A 30 years old female with premature ovarian failure [POF] was referred to the cytogenetic lab for chromosome analysis because of secondary amenorrhea. She appeared to be normal with no stigmata of Turner syndrome There was no family history of any reproductive abnormalities. Routine G-band chromosome analysis showed an abnormal female karyotype with mosaicism for X-chromosome. Twenty-two of the 45 metaphases analyzed had 45,X chromosome complement while the remaining 23 metaphases had 46 chromosomes with one normal X chromosome and one pseudo isodicentric X chromosome involving breakpoint at Xq26.X-chromosome mosaicism and/or deletions involving Xq is usually associated with abnormal sexual development and reproductive performance often with POF. Two specific regions on Xq have been defined in the literature as POF loci, POFI at Xq26-q28 and POF2 at Xq13.3-q21. detail clinical assessment of our patient revealed the presence of possible functional oocytes and she opted for IVF. Variant Turner with mosaicism involving pseudo isodicentric [x] [q26] is very rare. Possible mechanism of the origin of the two cell lines and their correlation with POF in our patient is discussed