Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia
نویسندگان
چکیده
منابع مشابه
Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia.
Poikiloderma with Neutropenia (PN), Clericuzio-Type (OMIM #604173) is characterized by poikiloderma, chronic neutropenia, recurrent sinopulmonary infections, bronchiectasis, and nail dystrophy. First described by Clericuzio in 1991 in 14 patients of Navajo descent, it has since also been described in non-Navajo patients. C16orf57 has recently been identified as a causative gene in PN. The purpo...
متن کاملTargeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.
Next-generation sequencing is a straightforward tool for the identification of disease genes in extended genomic regions. Autozygosity mapping was performed on a five-generation inbred Italian family with three siblings affected with Clericuzio-type poikiloderma with neutropenia (PN [MIM %604173]), a rare autosomal-recessive genodermatosis characterised by poikiloderma, pachyonychia, and chroni...
متن کاملclericuzio-type poikiloderma with neutropenia syndrome in a turkish family: a three report of siblings with mutation in the c16orf57 gene
clericuzio-type poikiloderma with neutropenia (pn) is characterized by poikiloderma, non-cyclic neutropenia, recurrent sinopulmonary infections, pachyonychia, and palmo- plantar hyperkeratosis. mutations in the c16orf57 gene, which is located on chromosome 16q13, have been identified as the cause of pn. pn was first described by clericuzio in navajo indians. herein, we reported the clini...
متن کاملClericuzio-type Poikiloderma with Neutropenia Syndrome in a Turkish Family: a Three Report of Siblings with Mutation in the C16orf57 gene.
Clericuzio-type poikiloderma with neutropenia (PN) is characterized by poikiloderma, non-cyclic neutropenia, recurrent sinopulmonary infections, pachyonychia, and palmo-plantar hyperkeratosis. Mutations in the C16orf57 gene, which is located on chromosome 16q13, have been identified as the cause of PN. PN was first described by Clericuzio in Navajo Indians. Herein, we reported the clinical pres...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2010
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33807