Expanding the Phenotypic Spectrum of Olmsted Syndrome
نویسندگان
چکیده
are of Slavic origin, suggesting an ancestral mutation propagated through Slavic migration to Northern Romania and Eastern Germany, where our patients are living. Nevertheless, the mutation affects a CpG dinucleotide, which has a high mutation rate from 5methylated CG to TG and its complementary pair CA, suggesting that it could also be recurrent. Altogether, we show that KS patients may harbor FERMT1 deep-intronic mutations, which are missed in targeted and whole-exome sequencing, and require RNA analysis or whole-genome sequencing. Our results argue against a genetic heterogeneity of KS.
منابع مشابه
Olmsted Syndrome Associated with Somatic Type of Delusion
The inheritance of Olmsted syndrome that is a very rare congenital with transgredient palmoplantar keratoderma is distinguished by the presence of massive hyperkeratosis with fissured skin and periorificial chaps. It usually appears during the early life and mostly in male pateints. Herein we report a case of Olmsted syndrome which is associated with ichthyosis and somatic type of delusion duri...
متن کاملA novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome
Olmsted syndrome (OS) is a rare keratinization disorder, typically characterized by two primary diagnostic hallmarks--mutilating palmoplanter and periorificial keratoderma. However, there's a growing body of literature reporting on the phenotypic diversity of OS, including the absence of aforementioned hallmarks and the presence of some unusual clinical features. Here we presented an atypical f...
متن کاملCHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.
BACKGROUND CHARGE syndrome is a highly variable, multiple congenital anomaly syndrome, of which the complete phenotypic spectrum was only revealed after identification of the causative gene in 2004. CHARGE is an acronym for ocular coloboma, congenital heart defects, choanal atresia, retardation of growth and development, genital hypoplasia, and ear anomalies associated with deafness. This typic...
متن کاملOlmsted syndrome in an Iranian family: report of two new cases.
Olmsted syndrome is a rare congenital entity characterized by combination of symmetrical, sharply-defined palmoplantar keratoderma with flexion deformities of the digits, periorificial keratosis, perianal involvement, onychodystrophy, and variable leukokeratosis. Herein, we report two new related male patients--the third familial cases of Olmsted syndrome--one with the full-blown spectrum of th...
متن کاملAcromelia‐oligodontia syndrome
This case report describes a patient with ankyloglossia, oligodontia, unilateral hypoplasia of the zygoma and mandible, along with bilateral distal reduction anomalies of his limbs without long bone abnormalities. This may represent a mild variant of oromandibular limb hypogenesis syndrome, expanding the phenotypic spectrum, or a previously unrecognized malformation syndrome.
متن کامل