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Updated: Apr 17, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome
Dorota M Monies1, Zuhair Rahbeeni, Mohamed Abouelhoda
1*Department of Genetics, Research Centre, King Faisal Specialist Hospital and Research Centre †Saudi Human Genome Program, King Abdulaziz City for Science and Technology ‡Department of Medical Genetics, Riyadh, Kingdom of Saudi Arabia.
Abstract:
Molecular genetics studies are of increasing importance in the diagnosis and classification of congenital diarrheal disorders. We describe the molecular genetic basis of tricho-hepato-enteric syndrome in patients from Saudi Arabia with novel mutations of SKIV2L (c.3559_3579del, p.1187_1193del) and TTC37 (C4102T, p.Q1368X). Interestingly, the congenital presence of café-au-lait spots and their distribution in the pelvis and lower limbs were a unique and consistent clinical feature of these patients and may aid differential diagnosis of congenital diarrheal disorders. This study expands allelic and phenotypic heterogeneity of syndromic diarrhea/tricho-hepato-enteric syndrome.
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