Treating Rare Genetic and Metabolic Disorders

March 30, 2011
School of Medicine, Kochi

Of late, research papers published from the Amrita Department of Pediatric Genetics have received worldwide attention. The papers were published in several international journals and were based on studies conducted in collaboration with international hospitals and institutes.

 Dr.Sheela-Namboothiri “The large numbers of patients that seek treatment here at Amrita is what made the studies possible,” stated Dr. Sheela Nampoothiri, Professor and Head of the Department of Pediatric Genetics at the Amrita School of Medicine, who co-authored most of these papers.

Dr. Sheela is considered as one of the few experts in India able to treat genetic disorders. She was happy to note that the studies and reports helped in providing satisfying answers to various cases undiagnosed for long.

Most research papers that were published discussed rare genetic disorders and syndromes. Highlighted below are some of these papers.


The American Journal of Human Genetics published a paper titled Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome. The paper cited NFIX gene as the candidate gene for Marshall-Smith syndrome (MSS), a severe malformation syndrome characterized by failure to thrive, respiratory insufficiency, accelerated osseous maturation, kyphoscoliosis and osteopenia.


Human Mutation, the official journal of Human Genome Variation Society published a paper titled Musculocontractural Ehlers-Danlos Syndrome (Former EDS Type VIB) and Adducted Thumb Clubfoot Syndrome (ATCS) Represent a Single Clinical Entity Caused by Mutations in the Dermatan-4-sulfotransferase 1 Encoding CHST14 Gene. Published in Wiley Online Library, the study was conducted in association with Ghent University Hospital and University Hospital of Sart-Tilman at Belgium.

Another paper was published in the American Journal of Medical Genetics titled Phenotypic Features of Carbohydrate Sulfotransferase 3 (CHST3) Deficiency in 24 Patients: Congenital Dislocations and Vertebral Changes as Principal Diagnostic Features. The same journal published a second paper titled Phenotype and Natural History in Marshall–Smith Syndrome.


The International Journal of Dermatology published a paper titled An Indian family with Sjo¨gren-Larsson syndrome caused by a novel ALDH3A2 mutation. The paper reported the case of two Indian sisters who suffered from Sjo¨gren-Larsson syndrome, a rare hereditary disorder. “This is the first reported case of mutation caused by the gene, ALDH3A2, in an Asian country other than Japan,” said Dr. Sheela.

The Journal of the Society for Inherited Metabolic Disorders published a paper titled Phenylalanine hydroxylase gene mutations in phenylketonuria patients from India: Identification of novel mutations that affect PAH RNA.

The Journal of Pediatric Dermatology published yet another paper titled Nevus Comedonicus Syndrome—Nevus Comedonicus Associated with Ipsilateral Polysyndactyly and Bilateral Oligodontia.

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