First IKBKG gene mutation study in Serbian incontinentia pigmenti patients
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چکیده
منابع مشابه
First IKBKG gene mutation study in Serbian incontinentia pigmenti patients.
INTRODUCTION Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis. Mutations of the IKBKG gene are the only known cause of IP. The presence or other than skin changes is important in the diagnosis of atypical IP cases when skin changes are discrete. OBJECTIVE The study was designed to analyze clinical manifestation, family histories and the frequency of IKBKG gene mutation i...
متن کاملIKBKG Mutation With Incontinentia Pigmenti and Ring-Enhancing Encephalopathy.
IKBKGMutationWith Incontinentia Pigmenti and Ring-Enhancing Encephalopathy Incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) is an X-linkeddominantgenodermatosis affectingskinandotherorgans, including the brain, with variable expressivity. Incontinentia pigmenti results frommutations in the inhibitor of κ-βkinase-γ gene (IKBKG),which is locatedonXq28.Deletions in this gene result in loss o...
متن کاملA Nonsense Mutation in the IKBKG Gene in Mares with Incontinentia Pigmenti
Ectodermal dysplasias (EDs) are a large and heterogeneous group of hereditary disorders characterized by abnormalities in structures of ectodermal origin. Incontinentia pigmenti (IP) is an ED characterized by skin lesions evolving over time, as well as dental, nail, and ocular abnormalities. Due to X-linked dominant inheritance IP symptoms can only be seen in female individuals while affected m...
متن کاملA Novel Frameshift Mutation of the IKBKG Gene Causing Typical Incontinentia Pigmenti.
INTRODUCTION Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis. Mutations of the IKBKG gene are responsible for IP. A deletion of exons 4-10 can be found in 80% of patients with IP. There are 69 different mutations of the IKBKG gene that have been reported. CASE OUTLINE A proband, female patient from a family without previously diagnosed IP is reported. She had skin and d...
متن کاملImproved molecular diagnosis of the common recurrent intragenic deletion mutation in IKBKG in a Filipino family with incontinentia pigmenti.
Incontinentia pigmenti is a rare, multisystem X-linked dominant genetic disorder caused by mutations in IKBKG, the encoding inhibitor of kappa light polypeptide gene enhancer in B-cells. Almost 80% of all cases result from a recurrent intragenic deletion mutation that removes exon 4-10. At present, this mutation can be detected by a multi-primer polymerase chain reaction (PCR) technique althoug...
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ژورنال
عنوان ژورنال: Srpski arhiv za celokupno lekarstvo
سال: 2013
ISSN: 0370-8179,2406-0895
DOI: 10.2298/sarh1308490m