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Volume 14 | Issue 2 | April to June 2021

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GeNeDit
April to June 2021\| Vol 14 \| Issue 2 \| Page No 01
More and More for Rare
Come February and there is a flurry of activity related to rare diseases to celebrate Rare Disease Day on 28th February. Last week I saw three patients of Gaucher disease type III on a single day, in the outpatient department. For a medical geneticist, rare diseases are not so rare, as 80% of rare diseases are genetic disorders. But still, getting 3 patients of a rare disease on one day is quite rare! Research Dr. Shubha Phadke

Clinical Vignette
April to June 2021\| Vol 14 \| Issue 2 \| Page No 02-04
NR5A1-related Disorders: Case Report, Review of Phenotypes and Issues in Genetic Counseling
Nuclear Receptor Subfamily 5 Group A Member 1 (NR5A1) encoded steroidogenic factor-1 (SF-1) regulates transcription of genes involved in steroidogenesis, sexual development and reproduction. SF-1 protein is expressed in the bipotential gonad and later in developing ovaries, testes and adrenal cortex. Dr Anju Shukla

Clinical Vignette
April to June 2021\| Vol 14 \| Issue 2 \| Page No 05-07
Truncation Variation in the Protocadherin 19(PCDH19 ) Gene Exhibiting Mosaicism in a Manifesting Heterozygous Male
Epilepsy and intellectual disability limited to females (EFMR)/ early infantile epileptic encephalopathy-9 (EIEE9) is an unusual X-linked disorder in which obligate male carriers are not affected and females show severe epilepsy with cognitive impairment. Dr Ashwin Dalal

Clinical Vignette
April to June 2021\| Vol 14 \| Issue 2 \| Page No 08-13
Familial Hemophagocytic Lymphohistiocytosis (FHL): An Illustrative Case and Review of Literature
Familial hemophagocytic lymphohistiocytosis (FHL) is a hyperinflammatory disorder which occurs due to a genetic defect in the cytolytic pathway of natural killer cells and cytotoxic T cells. Dr Sankar V H

GeNeXprESS
April to June 2021\| Vol 14 \| Issue 2 \| Page No 14-15
Rapid Genomic Testing in the Diagnosis of Mendelian Disorders
This study was conducted in Australia to evaluate the feasibility of ultra-rapid exome sequencing in critically ill pediatric patients. A total of 108 sick children with a median age of 28 days, underwent exome sequencing. Fifty five out of 108 patients (51%) received a molecular diagnosis within the median time of 3.3 days. Dr Vivekananda Bhat

PhotoQuiz
April to June 2021\| Vol 14 \| Issue 2 \| Page No 16
PhotoQuiz 52
This 16-year-old male patient was referred for evaluation of short stature, lower limb deformity, and intellectual disability. Findings characteristic for this disorder Dr Prajnya Ranganath

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GeNeEvent
April to June 2021\| Vol 14 \| Issue 2 \| Page No 17
1. Pledge4Rare: 3 decades of caring for Rare Diseases, from our home to yours. 2. SIAMG-ORDI lecture series 3. Race for 7 4. 5th National conference of the Indian Society of Primary Immune Deficiency (ISPID)

GeneVerse
April to June 2021\| Vol 14 \| Issue 2 \| Page No 17
Love for Genetics!
Contributed by: Dr. Suvarna Magar Department of Pediatrics, MGM Medical College, Aurangabad, India

GeneArt
April to June 2021\| Vol 14 \| Issue 2 \| Page No 17
Contributed by: Dr. Shubha R Phadke Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow

Announcements
1. SIAMG-Genzyme Fellowship Program in Prenatal Genetics

Published by : Society for Indian Academy of Medical Genetics
Address : Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow-226 014

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