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Monies, Dorota M; Rahbeeni, Zuhair; Abouelhoda, Mohamed; Naim, Ewa A; Al-Younes, Banan; Meyer, Brian F; Al-Mehaidib, Ali
Journal of pediatric gastroenterology and nutrition, 2015-March, Volume: 60, Issue: 3Journal Article
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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