Odisha’s first case of harlequin ichthyosis

Tags:
GS-III
S&T
Health
S&T

Odisha’s first case of harlequin ichthyosis

WHY?

Mutations in the ABCA 12 gene are stated to cause harlequin ichthyosis. The ABCA12 protein plays a major role in transporting fats in cells which make up the outermost layer of skin. Severe mutations in the gene lead to the absence or partial production of the ABCA12 protein. This results in lack of lipid transport and as a result, the skin development is affected by varying degrees according to the severity of the mutation, a doctor said citing a research paper on the disease.

Condition: The facial features of the baby, including the mouth, eyes and ears were deformed, restricting breathing and eating. The disease affected one in three million births and is caused due to a mutated gene inherited from the parents. The disease sees the skin form large diamond-shaped plates across the body that are separated by deep cracks (fissures). The skin is dry and scaly, almost like fish skin and hence the term ‘icthyosis’, derived from ‘ikthus’, Greek for fish.

Imp Points:

Odisha reported its first-ever case of a baby born with harlequin ichthyosis in Ganjam district. India’s first case was recorded in Nagpur, Maharashtra in 2016.
The disease is an extremely rare genetic disorder that resulted in thickened skin forming over nearly the entire body at birth.
Causes - The disease is caused due to mutations in the ABCA 12 gene (a mutated gene inherited from the parents).
The ABCA12 protein plays a major role in transporting fats in cells which make up the outermost layer of skin.
Severe mutations in the gene lead to the absence or partial production of the ABCA12 protein, which results in lack of lipid transport.

Occurrence - The disease affects one in three million births. There are around 200 to 250 such cases across the world. India’s first recorded case of a baby born with harlequin ichthyosis was in 2016, at a private hospital in Nagpur, Maharashtra. Such cases were also reported in Delhi, Patna and West Bengal.

Source: DTE

Join Our Telegram

US Resumes Nuclear Weapon Testing

Formation Day

03 Dec, 25
SHARE

On 1st November, eight Indian states—Andhra Pradesh, Chhattisgarh, Haryana, Karnataka, Kerala, Madhya Pradesh, Punjab, and Tamil Nadu—along with five Union Territories—Andaman and Nicobar Islands, Chandigarh, Delhi, Lakshadweep, and Puducherry—celebrate their Formation Day. This date marks an important milestone in India

Turtle (Kachhua) Wildlife Sanctuary

02 Dec, 25
SHARE

The Turtle Wildlife Sanctuary, also known as the Kachhua Sanctuary, is located in the Varanasi district of Uttar Pradesh. It is recognised as India’s first freshwater turtle wildlife sanctuary, established to conserve endangered turtle species and support the ecological health of the Ganga River. Location and Extent The sanctuary co

Introduction of AI and Computational Thinking (CT) in

02 Dec, 25
SHARE

The Ministry of Education plans to introduce Artificial Intelligence (AI) and Computational Thinking (CT) from Class 3 onwards in the 2026–27 academic year. This initiative is part of the National Curriculum Framework for School Education (NCF-SE) 2023 and aligns with the National Education Policy (NEP) 2020. The aim is to prepare student

Sal Tree

02 Dec, 25
SHARE

Scientists from the Environment Department of Himachal Pradesh University (HPU) in Shimla have recently revealed that the Sal tree (Shorea robusta) is the most effective natural air purifier for combating rising pollution levels. Their findings highlight the tree’s superior capacity to trap dust, absorb gases, and cleanse the air compared

US Resumes Nuclear Weapon Testing

02 Dec, 25
SHARE

The President of the United States has ordered the resumption of nuclear weapon testing after a gap of 33 years, the last test being in 1992. This decision marks a significant shift in global nuclear policy and has far-reaching implications for geopolitics, the environment, and international security. Status of Global Nuclear Weapon Testing