Редактирование: OFD1

Oral-facial-digital syndrome 1 protein (Protein 71-7A) [CXorf5]

==Publications==

{{medline-entry
|title=Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/19817772
|abstract=The oral-facial-digital syndrome type I (OFD I) is characterized by multiple congenital malformations of the face, oral cavity and digits. A polycystic kidney disease (PKD) is found in about one-third of patients but long-term outcome and complications are not well described in the international literature. Renal findings have been retrospectively collected in a cohort of 34 females all carrying a pathogenic mutation in the [[OFD1]] gene with ages ranging from 1 to 65 years. Twelve patients presented with PKD - 11/16 (69%) if only adults were considered -with a median age at diagnosis of 29 years [IQR (interquartile range) = (23.5-38)]. Among them, 10 also presented with renal impairment and 6 were grafted (median age = 38 years [IQR = (25-48)]. One grafted patient under immunosuppressive treatment died from a tumor originated from a native kidney. The probability to develop renal failure was estimated to be more than 50% after the age of 36 years. Besides, neither genotype-phenotype correlation nor clinical predictive association with renal failure could be evidenced. These data reveal an unsuspected high incidence rate of the renal impairment outcome in OFD I syndrome. A systematic ultrasound (US) and renal function follow-up is therefore highly recommended for all OFD I patients.
|mesh-terms=* Adolescent
* Adult
* Aging
* Child
* Child, Preschool
* Cohort Studies
* Female
* Genetic Association Studies
* Humans
* Infant
* Kidney
* Middle Aged
* Orofaciodigital Syndromes
* Proteins
* Renal Insufficiency
* Young Adult

|full-text-url=https://sci-hub.do/10.1111/j.1399-0004.2009.01290.x
}}