Gene causing rare disease found in south Indian woman

Doctors and scientists at a hospital Chennai have reported the very first occurrence of a rare disease, Haim-Munk Syndrome (HMS) — found only among specific Jewish populations — in a woman of Dravidian descent. Genetic analysis has identified the same gene mutation as the causative factor.

The finding was reported in the recent issue of the European Journal of Dentistry. Aswath N. Swamikannu B., Ramakrishnan S.N., Shamnugam R., Thomas J., and Arvind Ramanathan, present the case in a paper.

One of the authors, Arvind Ramanathan, who is also Principal Investigator, Human Genetics Laboratory, Sree Balaji Medical and Dental College and Hospital, explains: “Also known as Cochin Jewish disorder, the HMS was first reported among members of a small Jewish community where consanguinity was prevalent, from Cochin in Kerala. Beyond that, there is no record of the HMS being reported in any other ethnicity or population. This is the first time that we have found the condition in the South Indian Dravidian population, and it is interesting to note that it is the same genetic mutation (in Cathepsin C gene) that has caused it.”

The patient, a 23 year-old South Indian woman, showed some symptoms of HMS, though not all, but they were fairly well developed to arrive at a conclusive diagnosis, he adds. She had recurrent skin infections, periodontitis (inflammation that damages the gum and soft bone that support teeth), loss of teeth, and nails resembling claws.

“She had not been diagnosed earlier. When we read the premature loss of teeth with some of her other symptoms, the diagnosis became clear: HMS. A genetic test further confirmed it.”

Genetic tests are available to test for HMS, and the advantage of detecting it early is to be able to alleviate the symptoms and strengthen the bone and jaws, he adds. A task force has been set up at the college that includes members from other colleges and hospitals to record the incidence in Tamil Nadu and to move on to genetic diagnosis.

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Printable version | Oct 20, 2020 8:30:01 PM |

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