ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume : 8 Issue : 2 Year : 2024
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Turkish Society for Pediatric Endocrinology and Diabetes
A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2016; 8(2): 246-249 | DOI: 10.4274/jcrpe.2387

A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome

Nusrat Khan1, Waleed Dandan2, Noura Al Hassani1, Suha Hadi2
1Tawam Hospital, Clinic Of Pediatrics And Neonatology, Al Ain, United Arab Emirates
2Tawam Hospital, Clinic Of Pediatrics And Endocrinology, Al Ain, United Arab Emirates

Mitchell-Riley syndrome is a genetic disorder characterized by neonatal diabetes, pancreatic hypoplasia, intestinal atresia and/or malrotation, biliary atresia, and gallbladder aplasia or hypoplasia. It was considered a variant of the Martinez-Frias syndrome with similar phenotypic characteristics, except for neonatal diabetes and tracheoesophageal fistula. However, the genetic mutation in (regulatory factor X on chromosome 6) RFX6 was only detected in babies who had diabetes, making it different from the previously known mutations for the disease. This is the first reported case of a classical Mitchell-Riley syndrome in the Arab peninsula along with additional features and novel mutations in the RFX6 gene.

Keywords: Mitchell-Riley syndrome,Diabetes,pancreatic hypoplasia

Nusrat Khan, Waleed Dandan, Noura Al Hassani, Suha Hadi. A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome. J Clin Res Pediatr Endocrinol. 2016; 8(2): 246-249
Manuscript Language: English
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