ISSN 1662-4009 (online)

ESPE Yearbook of Paediatric Endocrinology (2020) 17 2.10 | DOI: 10.1530/ey.17.2.10

Neonatal Diabetes Mellitus

2.10. The clinical and genetic characteristics of permanent neonatal diabetes (PNDM) in the State of Qatar

Al-Khawaga S, Mohammed I, Saraswathi S, Haris B, Hasnah R, Saeed A, Almabrazi H, Syed N, Jithesh P, El Awwa A, Khalifa A, AlKhalaf F, Petrovski G, Abdelalim EM & Hussain K


To read the full abstract: Mol Genet Genomic Med., 2019 Oct;7(10):e00753. doi: 10.1002/mgg3.753. Epub 2019 Aug 23. PMID: 31441606

The unique population in the State of Qatar comprises over 2.6 million people who derived primarily from the Middle East and North Africa (MENA) and South Asia regions. Around 15% are indigenous Qataris of Arabian Peninsula ancestries, who have also immigrated to the State in the past decades. Native Qataris represent a population with a combination of Bedouin, South Asian and African descent, which contributes to their observed diversity at the genome level. Specifically, the Bedouin subpopulation continues to practice within?tribal marriages leading to high levels of homozygosity compared with other populations. The clinical and genetic analysis of neonatal diabetes mellitus (NDM) in The State of Qatar has not been studied before.

In this study 100% of NDM patients had an identifiable genetic etiology. RecessivePTF1A (encoding a transcription factor involved in pancreatic development)distal enhancer deletions mutations were the most frequent cause of NDM in this population, followed byINS (insulin) gene mutations. All NDM patients with a PTF1Adistal enhancer deletion mutations had pancreatic hypoplasia/agenesis, failure to thrive and short stature. No mutations were found in the ABCC8/KCNJ11 genes (which are the most common causes of NDM in Western populations). The incidence of NDM during the period 2001–2016 was 1:22 938 live births among the indigenous Qatari population, which is at least 10 times higher than worldwide estimates. This is one of the highest incidences in the world. The principal cause for the high incidence of NDM is attributed to a combination of consanguinity and low birth rates in Qatar. This study confirms that the causes of NDM in the MENA region are different from those in Western countries.

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