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.
Haim-Munk Syndrome has been reported only in specific Jewish populations
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