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Yang Y.,Bayi Childrens Hospital Affiliated to General Hospital of Beijing Military Region | Ren X.,Bayi Childrens Hospital Affiliated to General Hospital of Beijing Military Region | Xu Q.,General Hospital of Peoples Liberation Army | Wang C.,Bayi Childrens Hospital Affiliated to General Hospital of Beijing Military Region | And 2 more authors.
Gene | Year: 2013

Krabbe disease (OMIM #. 245200) is a rare autosomal recessive leukodystrophy caused by deficiency of galactocerebrosidase (GALC) activity. We identified four novel mutations of the GALC gene in two unrelated Chinese families with Krabbe disease: one insertion mutation, c.1836_1837insT, and one nonsense mutation, c.599C>A (p.S200X), in an infantile patient, and one deletion mutation, c.1911+1_1911+5delGTAAG, and one missense mutation, c.2041G>A, in an adult late-onset patient. This is the first identification of GALC mutations in the Chinese population. © 2013 Elsevier B.V.


Yang Y.,Bayi Childrens Hospital Affiliated to General Hospital of Beijing Military Region | Wu J.,MyGenostics Inc. | Liu H.,Bayi Childrens Hospital Affiliated to General Hospital of Beijing Military Region | Chen X.,Bayi Childrens Hospital Affiliated to General Hospital of Beijing Military Region | And 2 more authors.
Genomics | Year: 2013

Mucolipidosis II alpha/beta (ML II alpha/beta; I-cell disease) is a rare, inherited, metabolic disease and has often been clinically misdiagnosed. ML II alpha/beta results from a deficiency of the enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-PT), which causes the lysosomal enzymes to accumulate in plasma. We identified two new Chinese patients with ML II alpha/beta by lysosomal enzyme assay. Using targeted next-generation sequencing genetic analysis, we located two homozygous nonsense mutations in the GNPTAB gene, c.1071G>A (p.W357X) and c.1090C>T (p.R364X). These results were confirmed by Sanger sequencing. To our knowledge, the c.1071G>A mutation has not been previously reported. Our findings add to the number of reported cases of this rare illness and to the GNPTAB pathogenic mutation database. This work also demonstrates the application of lysosomal enzyme assay and targeted next-generation sequencing for the genetic screening analysis and diagnosis of ML II alpha/beta. © 2013 Elsevier Inc.


Yang Y.,Bayi Childrens Hospital Affiliated to General Hospital of Beijing Military Region | Wang C.,Bayi Childrens Hospital Affiliated to General Hospital of Beijing Military Region | Wang F.,Bayi Childrens Hospital Affiliated to General Hospital of Beijing Military Region | Zhu L.,Bayi Childrens Hospital Affiliated to General Hospital of Beijing Military Region | And 2 more authors.
Gene | Year: 2012

We describe a 5-year-old girl presented with autism and mental retardation features. Conventional karyotyping revealed a novel unidirectional translocation t(11;9)(p15;p23). HumanCytoSNP-12 Chip analysis identified a 13. Mb deletion from 9p24.3 to 9p23 and a 12.5. Mb duplication from 9p23 to 9p21.2. The karyotype was described as 45,XX,psu dic(11; 9)(p15;p23), which was reported for the first time here. The deleted region, extending from 9p24.3 to 9p23, overlaps with the candidate region for monosomy 9p syndrome and contains a potential autism spectrum disorders (ASD) locus. The duplication region extending from 9p23 to 9p21.2 was previously identified as a critical region for the 9p duplication syndrome. These results suggested that the apparently balanced de novo translocations could produce cryptic deletions or duplications, and the precise mapping of the abnormal area may improve clinical management. © 2012 Elsevier B.V.

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