Mutation analysis

Novel and recurrent COL7A1 mutations in Chinese patients with dystrophic epidermolysis bullosa pruriginosa

K. J. Zhu, Zhu, C. Y., Zhou, Y., and Fan, Y. M., Novel and recurrent COL7A1 mutations in Chinese patients with dystrophic epidermolysis bullosa pruriginosa, vol. 13. pp. 7587-7592, 2014.

Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr) is a rare subtype of dystrophic epidermolysis bullosa (DEB). This disease is characterized by severe itching, lichenoid nodules or prurigo-like lesions, and linear scarring with a predilection for the extensor limbs. Pathogenic mutations in the type VII collagen alpha 1 (COL7A1) gene have been identified. We analyzed mutations in the COL7A1 gene in a Chinese family including 5 affected individuals with typical DEB-Pr and in a patient previously reported with sporadic DEB-Pr.

A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria

M. L. Lai, Yang, L. J., Zhu, X. H., and Li, M., A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria, vol. 11, pp. 1731-1737, 2012.

Dyschromatosis symmetrica hereditaria (DSH) is an autosomal dominant cutaneous disorder, characterized by a mixture of hyperpigmented and hypopigmented macules mostly on the dorsal portions of the extremities. Pathogenic mutations have been identified in the double-stranded RNA-specific adenosine deaminase (DSRAD) gene. We studied a Chinese family that included four affected individuals with DSH phenotypes. PCR and direct sequencing were carried out to detect the entire coding region and exon-intron boundaries of the DSRAD gene.

A novel NF1 mutation in a Chinese patient with giant café-au-lait macule in neurofibromatosis type 1 associated with a malignant peripheral nerve sheath tumor and bone abnormality

H. - X. Tong, Li, M., Zhang, Y., Zhu, J., and Lu, W. - Q., A novel NF1 mutation in a Chinese patient with giant café-au-lait macule in neurofibromatosis type 1 associated with a malignant peripheral nerve sheath tumor and bone abnormality, vol. 11, pp. 2972-2978, 2012.

Neurofibromatosis type 1 (NF1; OMIM#162200) is a common neurocutaneous disorder that is characterized by multiple café-au-lait, skinfold freckling, Lisch nodules, and neurofibromas. Mutations in the NF1 gene, which encodes the neurofibromin protein, have been identified as the pathogenic gene of NF1. In this study, we present a clinical and molecular study of a Chinese patient with giant café-au-lait in NF1. The patient showed >6 café-au-lait spots on the body, axillary freckling, and multiple subcutaneous neurofibromas.

A novel COL7A1 mutation in a Korean patient with Hallopeau-Siemens recessive dystrophic epidermolysis bullosa

J. Park, Chae, H., Kim, M., Kim, Y., Park, I. Y., Shin, J. C., and Park, Y. M., A novel COL7A1 mutation in a Korean patient with Hallopeau-Siemens recessive dystrophic epidermolysis bullosa, vol. 12, pp. 678-682, 2013.

Dystrophic epidermolysis bullosa (DEB) is an inherited skin fragility disorder that presents various clinical manifestations. DEB is characterized by separation of sublamina densa tissue and abnormalities in the anchoring fibrils that result from mutations in COL7A1 and subsequent defects in type VII collagen.

Search for methylation-sensitive amplification polymorphisms in mutant figs

M. G. F. Rodrigues, Martins, A. B. G., Bertoni, B. W., Figueira, A., and Giuliatti, S., Search for methylation-sensitive amplification polymorphisms in mutant figs, vol. 12, pp. 2267-2280, 2013.

Fig (Ficus carica) breeding programs that use conventional approaches to develop new cultivars are rare, owing to limited genetic variability and the difficulty in obtaining plants via gamete fusion. Cytosine methylation in plants leads to gene repression, thereby affecting transcription without changing the DNA sequence. Previous studies using random amplification of polymorphic DNA and amplified fragment length polymorphism markers revealed no polymorphisms among select fig mutants that originated from gamma-irradiated buds.

Mutations in the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria

G. L. Zhang, Shi, H. J., Shao, M. H., Li, M., Mu, H. J., Gu, Y., Du, X. F., and Xie, P., Mutations in the ADAR1 gene in Chinese families with dyschromatosis symmetrica hereditaria, vol. 12, pp. 2794-2799, 2013.

We investigated 2 Chinese families with dyschromatosis symmetrica hereditaria (DSH) and search for mutations in the adenosine deaminase acting on RNA1 (ADAR1) gene in these 2 pedigrees. We performed a mutation analysis of the ADAR1 gene in 2 Chinese families with DSH and reviewed all articles published regarding ADAR1 mutations reported since 2003 by using PubMed.

A preliminary mutation analysis of phenylketonuria in southwest Iran

N. Ajami, Kazeminezhad, S. R., Foroughmand, A. M., Hasanpour, M., and Aminzadeh, M., A preliminary mutation analysis of phenylketonuria in southwest Iran, vol. 12, pp. 4958-4966, 2013.

Phenylketonuria (PKU) is a heterogeneous and autosomal recessive metabolic disorder that is mainly caused by mutations in the hepatic phenylalanine hydroxylase (PAH) gene. This study was designed to identify PAH mutations within exons 6, 7, and 10-12 in PKU patients from southwest Iran. Forty Iranian patients with clinical and biochemically confirmed PKU were enrolled.

Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome

L. Q. Wu, Hu, J. J., Xue, J. J., and Liang, D. S., Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome, vol. 10, pp. 2517-2522, 2011.

Congenital nephrotic syndrome of the Finnish type (CNF) is a lethal, autosomal recessive disorder mainly caused by mutations in the NPHS1 gene; it is found at a relatively high frequency in Finns. We investigated the disease-causing mutations in a Chinese family with CNF and developed a prenatal genetic diagnosis for their latest pregnancy. Mutation analysis was made of all exons and exon/intron boundaries of NPHS1 in the fetus, parents and 50 unrelated controls using PCR and direct sequencing.

A novel single-base deletion mutation of the RUNX2 gene in a Chinese family with cleidocranial dysplasia

C. Y. Fang, Xue, J. J., Tan, L., Jiang, C. H., Gao, Q. P., Liang, D. S., and Wu, L. Q., A novel single-base deletion mutation of the RUNX2 gene in a Chinese family with cleidocranial dysplasia, vol. 10, pp. 3539-3544, 2011.

We identified a disease-causing mutation of the RUNX2 gene in a four-generation Chinese family affected with cleidocranial dysplasia (CCD). For mutation analysis, the coding region of RUNX2 was sequenced with DNA from two patients and three unaffected family members. The RUNX2 mutation was investigated in 50 normal controls by denaturing high pressure liquid chromatography.

Subscribe to Mutation analysis