Many with extremely short stature have genetic mutations, shows Delhi’s Gangaram Hospital study – The Indian Express

Although normal variations in height are common, many of those with extremely short stature have genetic mutations, found an almost two-year-long study by the genetic clinic of Sir Ganga Ram Hospital in Delhi.

The diagnosis of such mutations could be made just by assessing the clinical profile of the patients, with the genetic testing required in the rest.

The study included 455 individuals between the ages of 10 months and 16 years who came to the hospitals genetic clinic between January 2017 and October 2018. All the individuals were in the lower third percentile for their height at age. The study was done to assess the spectrum of genetic disorders in persons with short stature.

Normal variation in adult height is largely due to inherited genetic factors. But, by contrast, at the extreme of short stature, patients often have mutations (changes) in a single gene, resulting in large effects on height.

Genetics plays an important part in determining an individuals height. Although there are many monogenic disorders (inherited diseases controlled by a fault in a single gene) that lead to perturbations in growth and result in short stature, this study asserts the importance of a good clinical examination to enable correct diagnosis. We wanted to reiterate that amongst the armamentarium of genetic tests available, a clinical profile assessment enables a diagnosis in 65 per cent of patients with proportionate short stature, said Dr Ratna Dua Puri, chairperson of the Institute of Medical Genetics and Genomics at Sir Ganga Ram Hospital.

Among the patient who could be diagnosed based on clinical presentation, 94.3 per cent had Downs Syndrome as per the study. Of those who needed to undergo genetic screening, 63 per cent had proportionate short stature meaning the upper and lower body were equally, abnormally short. Of these, 65 per cent of the individuals had recognisable genetic syndromes such as Turner Syndrome (one of the X chromosomes is partially missing), Williams Syndrome (developmental disorder affecting many parts of the body), and RASopathies (a group of rare conditions caused by mutations in genes that make proteins that control cell function, cell maturation, and cell death).

Of the 37 per cent who had disproportionate short stature (either upper or lower part of the body is short), 45 per cent had Lysosomal Storage Disorder (a group of metabolic diseases that lead to the build-up of various toxic materials in the organs) and 44 per cent had Skeletal Dysplasias (a group of condition that affects bone development, neurological function, and cartilage growth).

Through this study, we have attempted to represent the genetic spectrum of disorders in children with short stature and the appropriate testing indications. This becomes more relevant with the increasing ability of the tests and decreasing costs. Achieving a definitive diagnosis can help to guide prognosis, provide treatment and genetic counselling to the families, said Dr Puri.

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Many with extremely short stature have genetic mutations, shows Delhi's Gangaram Hospital study - The Indian Express