Two novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family
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چکیده
منابع مشابه
Two 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 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...
متن کاملIdentification of Two Missense Mutations of ERCC6 in Three Chinese Sisters with Cockayne Syndrome by Whole Exome Sequencing
Cockayne syndrome (CS) is a rare autosomal recessive disorder, the primary manifestations of which are poor growth and neurologic abnormality. Mutations of the ERCC6 and ERCC8 genes are the predominant cause of Cockayne syndrome, and the ERCC6 gene mutation is present in approximately 65% of cases. The present report describes a case of Cockayne syndrome in a Chinese family, with the patients c...
متن کاملA novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotype.
BACKGROUND Cockayne syndrome is an autosomal recessive, heterogeneous syndrome with classical features, including short stature, microcephaly, developmental delay, neuropathy, and photosensitivity. New genomic approaches offer improved molecular diagnostic potential. METHODS Whole-exome sequencing was employed to study a consanguineous extended family with severe short stature and variable pr...
متن کاملcockayne syndrome: report of two cases within a family
the clinical and phenotypic features of two siblings (a 12 years old girl and her 7 year old brother) with cockayne syndrome are described. the main problems were mild to moderate mental retardation, dwarfism, clumsy gait, photosensitive skin lesions and progeroid (senile like) appearance. brain ct - scans revealed symmetrical, well defined areas of calcification mainly located at lenticular nu...
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ژورنال
عنوان ژورنال: Molecular Medicine Reports
سال: 2017
ISSN: 1791-2997,1791-3004
DOI: 10.3892/mmr.2017.6487