title: Expanding phenotypic and allelic heterogeneity of tricho-hepato-enteric syndrome.
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.
authors.affiliation: *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.
authors.forename: Dorota M
authors.initials: DM
authors.lastname: Monies
authors.forename: Zuhair
authors.initials: Z
authors.lastname: Rahbeeni
authors.forename: Mohamed
authors.initials: M
authors.lastname: Abouelhoda
authors.forename: Ewa A
authors.initials: EA
authors.lastname: Naim
authors.forename: Banan
authors.initials: B
authors.lastname: Al-Younes
authors.forename: Brian F
authors.initials: BF
authors.lastname: Meyer
authors.forename: Ali
authors.initials: A
authors.lastname: Al-Mehaidib
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D002648:Child; D018389:Codon, Nonsense; D015331:Cohort Studies; D003241:Consanguinity; D004265:DNA Helicases / Q000235:genetics*; D004252:DNA Mutational Analysis; D003968:Diarrhea, Infantile / Q000235:genetics* / Q000503:physiopathology*; D019066:Facies; D005192:Family Health; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics* / Q000503:physiopathology*; D017353:Gene Deletion; D006201:Hair Diseases / Q000235:genetics* / Q000503:physiopathology*; D006801:Humans; D017495:Hyperpigmentation / Q000209:etiology*; D008297:Male; D009154:Mutation; D012529:Saudi Arabia; D055815:Young Adult
chemical_list: D018389:Codon, Nonsense; D004265:DNA Helicases; C114718:SKIV2L protein, human