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Volume 14 | Issue 4 | October to December 2021

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October to December 2021| Vol 14 | Issue 4 | Page No 01
Think of Rare Commonly!
Monogenic diseases are rare! But presentations of many of them overlap with, or are similar to those of common non-genetic or multifactorial disorders. Studies on novel genes of autoinflammatory disorders described in the GenExpress in this issue highlight the same point. These papers talk about gain-of-function mutations in genes involved in innate immunity. The presenting features of these monogenic...
Dr. Shubha Phadke
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October to December 2021| Vol 14 | Issue 4 | Coverpage
PhotoQuiz 54
This 4-year-old female child was referred for evaluation of short stature, waddling gait, and bowing of legs. Her serum biochemical parameters (normal values given in the brackets) were as follows: parathyroid hormone: 1.81pmol/l (1.1-6.6); 25 hydroxy vitamin...

Dr Shubha Phadke
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Clinical Vignette

October to December 2021| Vol 14 | Issue 4 | Page No 02-04
Limitations of Whole-Exome Sequencing: Report of a Child with X-Linked Adrenoleukodystrophy
X-linked adrenoleukodystrophy is the most common disorder of peroxisomal beta-oxidation of very long chain fatty acids. It presents with three distinct phenotypes, including the childhood cerebral form, adrenomyeloneuropathy and Addison's disease. It is an X-linked disorder caused by pathogenic variants in the ABCD1 gene. Our case describes the diagnostic odyssey in a six-year-old child with neuroregression in...

Veronica Arora, Samarth Kulshrestha, Sunita Bijarnia-Mahay
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October to December 2021| Vol 14 | Issue 4 | Page No 05-14
Next-Generation Sequencing-Based Testing of Mendelian Disorders in Families Seeking Prenatal Diagnosis: An Analysis of 25 Cases
We retrospectively analysed the findings of 25 cases of next-generation sequencing-based prenatal diagnosis at our centre. Couples referred for prenatal genetic testing to prevent recurrence of genetic disorders in the family (diagnosed in a previous child or other family member), were included in the study. For couples who sought prenatal diagnosis in view of history of a previous child being affected with a suspected...

Seema Thakur1, Shubhnita Singh1, Preeti Paliwal2, Puneet Jain3, Saurabh Malhotra3, Tanu Gera3, Preety Sharma4
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October to December 2021| Vol 14 | Issue 4 | Page No 15-19
Gaucher Disease: A Case Series
Gaucher disease (GD) is the commonest lysosomal storage disorder (LSD). We report a case series of GD from a single centre of North India. Over a 2-year period, 21 children referred with chronic splenohepatomegaly, after ruling out hemolysis and portal hypertension, were screened for GD. GD was diagnosed in 13 of them. Initial screening was done on a dried blood spot sample. Nine of them underwent...

Lalit Bharadia, Kusum Kalla, Vivek Jain
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October to December 2021| Vol 14 | Issue 4 | Page No 20-21
Novel Monogenic Autoinflammatory Diseases
Six unrelated individuals presented with recurrent fever, rash, diarrhoea, failure to thrive and viral-like airway infection. All had normal T cell count, low B cell count and hypogammaglobulinemia. Exome sequencing (ES) identified four de novo missense variants (p.Ala76Val, p.Cys109Tyr, p.Val121Gly, and p.Leu198Val) in the OAS1 gene. OAS1 (oligoadenylate synthetase 1) is a type 1- interferon inducible protein...

Dhanya Lakshmi N
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