Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy
نویسندگان
چکیده
منابع مشابه
Erratum to “Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies”
[This corrects the article DOI: 10.1155/2014/946010.].
متن کاملLarge contiguous gene deletions in Sjögren-Larsson syndrome.
Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme that catalyzes the oxidation of fatty aldehyde to fatty acid. More than 70 mutations have been identified in SLS patients, including small deletions or insertions, missense mutations, splicing ...
متن کاملRAI1 gene mutations: mechanisms of Smith–Magenis syndrome
Smith-Magenis syndrome (SMS; OMIM #182290) is a complex genetic disorder characterized by distinctive physical features, developmental delay, cognitive impairment, and a typical behavioral phenotype. SMS is caused by interstitial 17p11.2 deletions, encompassing multiple genes and including the retinoic acid-induced 1 gene (RAI1), or by mutations in RAI1 itself. About 10% of all the SMS patients...
متن کاملRAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.
BACKGROUND Smith-Magenis syndrome (SMS) (OMIM No 182290) is a mental retardation syndrome characterised by behavioural abnormalities, including self injurious behaviours, sleep disturbance, and distinct craniofacial and skeletal anomalies. It is usually associated with deletion involving 17p11.2 and is estimated to occur in 1/25,000 births. Heterozygous frameshift mutations leading to protein t...
متن کاملPeripheral neuropathy in hypereosinophilic syndrome with vasculitis.
A 53-year-old woman with non-productive cough of unexplained aetiology for two years, developed a sub-acute symmetrical polyneuropathy involving all four limbs, accompanied by fever, cutaneous rash and myalgia in lower limbs. Laboratory studies revealed a leukocytosis with 70% eosinophils and excluded any cause for the hypereosinophilia. An echocardiogram showed increase in thickness of the atr...
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: Human Genetics
سال: 2016
ISSN: 0340-6717,1432-1203
DOI: 10.1007/s00439-016-1703-5