Rare Genetic Disorder Hits Ahmedabad Family

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Ahmedabad:  Three children of an Ahmedabad couple are suffering from a rare genetic disorder. This is for the first time that such a rare case has been detected in India.

Haresh Chavda, a Botad-based mason and his wife Kanchan’s  three children suffer from mental retardation and are unable to speak or even gesture for food and water. The children are completely dependent on the couple for daily ablutions. They do not have any control over defecation and urination. They get seizures regularly.

After five years of advanced genetic testing, doctors found that the children have a rare anomaly called ‘Mental Retardation 42’. Dr Jayesh Sheth and Dr Frenny Sheth, both geneticists, say this is the first such detection in India and only ten children of six families have been detected with this genetic defect across the world. The disorder takes place when a copy of the defective PGAP1 gene is passed on to children from both parents.

Dr Jayesh said that the couple first came to them over five years ago. At the time, both the daughters of the couple — Mittal (12) and Prarthana (10) — had mental retardation. The girls were born after two miscarriages. “We carried out a chromosomal study but the test did not reveal any anomaly,” said Dr Frenny. “Intrigued, we ordered the Array-Based Comparative Genomic Hybridization (ACGH) which is akin to an MRI of the genetic material. This revealed a deletion in LINGO2 gene which they inherited from the father. However, this defect is not potent enough to cause mental retardation. The mystery only deepened.

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