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Updated: May 20, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A novel leprechaunism mutation, Cys807Arg, in an Arab infant: a rare cause of hypoglycaemia
Zaineb S Baqir1, Tawfiq T Al-Lawati, Saniya O Al Hussaini
1Division of Child Health, Royal Hospital, Bowsher, Muscat, Sultanate of Oman.
Abstract:
Leprechaunism is a rare autosomal recessive disorder which is usually fatal in early infancy or childhood. There is a paucity of genetic data on leprechaunism in the Arab population. A 4-month-old boy presented with jaundice, asymptomatic hypoglycaemia and growth retardation with features of leprechaunism. A novel Cys807Arg was identified, which could facilitate antenatal diagnosis for families in the Middle East.
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