Work

Basilicata-Akhtar Syndrome: Unraveling an Ultrarare Cause of Developmental Delay

Year: 2024

Type: article

Abstract: There is still more to learn about the etiology of extremely uncommon developmental disorders. A heterozygous or hemizygous pathogenic variation in male-specific lethal 3 (MSL3) causes the uncommon X-linked condition known as Basilicata-Akhtar syndrome, which is characterized by a global developmental delay that is evident from infancy, feeding difficulties, and muscle hypotonia. Thus far, over 40 cases have been documented. Here, we report the first case of Basilicata-Akhtar syndrome in India. A 3-year-old boy presented with global development delay. Physical examination revealed dysmorphism and hypotonia. After whole exome sequencing, exon 8 of the MSL3 gene on chromosome X showed evidence of a hemizygous single base pair deletion.

Source: Cureus

DOI: 10.7759/cureus.67041

Authors: Vishwanath Kulkarni, Shiji Chalipat, Aryan Gupta, Akanksha Bhosle, Mridu Bahal

Institutions: Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D.Y. Patil Vidyapeeth, Pune, Bharati Vidyapeeth (Deemed to be University)

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4401668570