Step to CEP152: uncovering a new mutation implicated in Seckel syndrome.
نویسنده
چکیده
منابع مشابه
CtIP Mutations Cause Seckel and Jawad Syndromes
Seckel syndrome is a recessively inherited dwarfism disorder characterized by microcephaly and a unique head profile. Genetically, it constitutes a heterogeneous condition, with several loci mapped (SCKL1-5) but only three disease genes identified: the ATR, CENPJ, and CEP152 genes that control cellular responses to DNA damage. We previously mapped a Seckel syndrome locus to chromosome 18p11.31-...
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Seckel syndrome is a heterogeneous, autosomal recessive disorder marked by prenatal proportionate short stature, severe microcephaly, intellectual disability, and characteristic facial features. Here, we describe the novel homozygous splice-site mutations c.383+1G>C and c.4005-9A>G in CDK5RAP2 in two consanguineous families with Seckel syndrome. CDK5RAP2 (CEP215) encodes a centrosomal protein w...
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The greatest difference between species is size; however, the developmental mechanisms determining organism growth remain poorly understood. Primordial dwarfism is a group of human single-gene disorders with extreme global growth failure (which includes Seckel syndrome, microcephalic osteodysplastic primordial dwarfism I [MOPD] types I and II, and Meier-Gorlin syndrome). Ten genes have now been...
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In India, Holstein and its crosses are being used extensively in breeding programmes and all these breeding bulls are screened for autosomal recessive genes. Blood samples are collected in ethylenediaminetetraacetic acid (EDTA) coated tubes and DNA was isolated by using phenol-chloroform method. Polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) wereperformed by using...
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عنوان ژورنال:
- Clinical genetics
دوره 79 5 شماره
صفحات -
تاریخ انتشار 2011