Case Report

Related GMR Articles

c.549delC; CCD; DHPLC; Mutation analysis; RUNX2

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 ... more

C.Y. Fang; J.J. Xue; L. Tan; C.H. Jiang; Q.P. Gao; D.S. Liang; L.Q. Wu
Chinese family; Congenital nephrotic syndrome of Finnish type; Mutation analysis; NPHS1; Prenatal genetic diagnosis

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 ... more

L.Q. Wu; J.J. Hu; J.J. Xue; D.S. Liang
Mutation analysis; Phenylalanine hydroxylase; Phenylketonuria; Sequencing; Southwest Iran

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. ... more

N. Ajami; S.R. Kazeminezhad; A.M. Foroughmand; M. Hasanpour; M. Aminzadeh
ADAR1 gene; Dyschromatosis symmetrica hereditaria; Mutation analysis

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 ... more

G.L. Zhang; H.J. Shi; M.H. Shao; M. Li; H.J. Mu; Y. Gu; X.F. Du; P. Xie
DNA methylation; Epigenetic inheritance; Molecular marker; Mutation analysis; Plant breeding

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 ... more

M.G.F. Rodrigues; A.B.G. Martins; B.W. Bertoni; A. Figueira; S. Giuliatti
COL7A1; Hallopeau-Siemens recessive dystrophic epidermolysis bullosa; Mutation analysis

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. A 16-month-old boy was diagnosed with Hallopeau-Siemens recessive DEB ... more

J. Park; H. Chae; M. Kim; Y. Kim; I.Y. Park; J.C. Shin; Y.M. Park
Giant café-au-lait; Mutation analysis; Neurofibromatosis type 1; NF1 gene

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 ... more

H.X. Tong; M. Li; Y. Zhang; J. Zhu; W.Q. Lu
DSRAD gene; Dyschromatosis symmetrica hereditaria (DSH); Mutation analysis

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 ... more

M.L. Lai; L.J. Yang; X.H. Zhu; M. Li