Morquio Syndrome - A raising mutation among Gujarati Indian

MBBS
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In recent years,a genetic disorder have been observed among specific communities.

One such condition is Morquio syndrome found among 1 in every 10,000 live births among certain Gujarati Patidar community.

Let’s understand Morquio syndrome :

-Condition causing bone growth abnormalities because enzymes can’t break down sugar molecules (glycosaminoglycans).

-Founder mutation-(p.P77R) in the GALNS gene.

- Symptoms start in early childhood and worsen over time.

Morguio syndrome
Morguio syndrome996×1041 77.8 KB

What do you think could me be the main reason for this genetic prevalence?

What is the role of healthcare professionals in this?

MBH/AB

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Consanguineous marriages could be a reason.

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Role of Healthcare professionals it to rightly diagnose rare diseases like these and start treatment quickly

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Informative. I am from Gujarat, seen some such case but don’t know the exact cause and reason.

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Very interesting, maybe because of genetics and the increased rate of marriage within the community and family.

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Proper screening for genetic condition and awareness should be created.

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I think geographic conditions may influence genetic disorders in a particular community.

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Interesting read!

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Yess correct

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Absolutely

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True

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We can say the major reason behind this could be consanguineous marriages within certain community.

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Yes

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Interesting! The geographical distribution and marriages among close relatives could be contributing factors. It is concerning to see how conditions like Morquio syndrome can significantly affect individuals and their quality of life.

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Yes it can be one of the reasons.

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True

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Thank you for this informative post @DrPal_28. I wasn’t aware of its higher prevalence in Gujarat. As this syndrome is primarily seen in the Patidar Gujarati community, it’s most probable cause could be marriages happening within the same community.

As we already know the target group, genetic profiling of the parents before they plan to conceive could possibly prevent it. Prenatal genetic profiling of the child and ensuring treatment at the right time could be of great help.:thinking:

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Totally agree with you

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That is already something new

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