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Kuldeep Dhariwal

 

Kuldeep Dhariwal

Nmc Specialty Hospital,
UAE

Abstract Title: NONO- Associated X- Linked Intellectual Disability Syndrome

Biography:

Research Interest:

NONO- Associated X- Linked Intellectual Disability Syndrome

Aim: Introduction: NONO is a TORC-interacting protein that is necessary for cAMP-dependent activation of CREB target genes in vivo. This protein is located on chromosome Xq13.1 and encodes RNA-binding and DNA -binding proteins that involved in RNA synthesis. Hemizygous loss of function NONO variants have been associated with syndromic intellectual disability with left ventricular noncompaction(LVNC) , congenital cardiac defects and cardiomyopathy. X-linked recessive syndromic intellectual developmental disorder-34(MRXS34) is characterized by delayed psychomotor development , intellectual disability with poor speech , dysmorphic facial feature , thickening of corpus callosum.

Material and Method: we reviewed 17 cases related to NONO-associated X-linked intellectual disability syndrome.

Results: A 11 year old male child admitted in our hospital with no signs of life . child was revived after resuscitation. Child had developmental delay , intellectual disability , dysmorphic facial features , microcephaly, slender build . Facial feature include long face with up slanting palpebral fissures, malar ypoplasia, small open mouth. ECHO showed severe systolic and diastolic function with ejection fraction of 20-25 %. Child exhibited low muscle tone , Neurologic examination showed hypotonia, increased patellar and Achilles reflexes without clonus. CT scan of Brain was normal. Whole exome sequencing showed a hemizygous pathogenic variant in c.1093>t(p.Arg365Ter) variant in NONO gene. A heterozygous variant of uncertain significance in 935G>A ( p.Gly312Glu) variant in TNNI3K gene was also observed in this child.

Conclusions: We conclude that It is a rare disease with features of developmental delay, cardiomyopathy , dysmorphic facial features . Microcephaly was found in this case as compared to previous 17 cases where macrocephaly was observed. KEYWORDS syndromic intellectual disability, microcephaly, left ventricular noncompaction, NONO gene, TNNI3K gene.