Cockayne syndrome type A: novel mutations in eight typical patients
نویسندگان
چکیده
منابع مشابه
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
BACKGROUND Cockayne syndrome (CS) is a rare, autosomal recessive multisystem disorder characterised by prenatal or postnatal growth failure, progressive neurological dysfunction, ocular and skeletal abnormalities and premature ageing. About half of the patients with symptoms diagnostic for CS show cutaneous photosensitivity and an abnormal cellular response to UV light due to mutations in eithe...
متن کاملIdentification of eight novel NSD1 mutations in Sotos syndrome.
J Kamimura, Y Endo, N Kurotaki, A Kinoshita, N Miyake, O Shimokawa, N Harada, R Visser, H Ohashi, K Miyakawa, J Gerritsen, A M Innes, L Lagace, M Frydman, N Okamoto, R Puttinger, S Raskin, B Resic, V Culic, K Yoshiura, T Ohta, T Kishino, M Ishikawa, N Niikawa, N Matsumoto . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ...
متن کاملTwo novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family
Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized principally by progressive growth failure, neurologic abnormality and premature aging. Mutations of excision repair cross‑complementation group 6 (ERCC6) and ERCC8 are predominantly responsible for CS, of which mutation of ERCC6 accounts for approximately two thirds of cases. The current report describes two siblings wi...
متن کاملA Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome
Cockayne syndrome (CS) is a rare autosomal recessive multisystem disorder characterized by impaired neurological and sensory functions, cachectic dwarfism, microcephaly, and photosensitivity. This syndrome shows a variable age of onset and rate of progression, and its phenotypic spectrum include a wide range of severity. Due to the progressive nature of this disorder, diagnosis can be more impo...
متن کاملIdentification of Two Novel ERCC6 Mutations in Old Order Amish with Cockayne Syndrome.
Cockayne syndrome (CS) is a rare autosomal recessive disorder characterized by progressive multisystem degeneration and segmental premature aging. Mutations in the DNA repair gene ERCC6 are responsible for the majority of CS cases reported. In this study, we identified 4 patients presenting with CS from 2 Old Order Amish families. Sequence analysis of the ERCC6 gene revealed 2 novel mutations a...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2006
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s10038-006-0011-7