syndactyly/arginine

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[Genotype-phenotype analysis of a Chinese family with split hand/split foot and syndactyly].

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OBJECTIVE To determine the causative gene mutation in a Chinese family with split hand/split foot malformation (SHFM) and explore the genotype-phenotype relationship. METHODS Genomic DNA was extracted from peripheral blood samples of the patients and their family members. Polymerase chain reaction

Identification of a novel NOG mutation in a Chinese family with proximal symphalangism.

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Proximal symphalangism (SYM1) is an autosomal dominant disorder, mainly characterized by variable fusion of the proximal interphalangeal joints of the hands and feet. To date, two genes, GDF5 and NOG, have been reported to associate with SYM1. Herein, we clinically characterized a Chinese family

A mutation in the heparin-binding site of noggin as a novel mechanism of proximal symphalangism and conductive hearing loss.

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The access of bone morphogenetic protein (BMP) to the BMP receptors on the cell surface is regulated by its antagonist noggin, which binds to heparan-sulfate proteoglycans on the cell surface. Noggin is encoded by NOG and mutations in the gene are associated with aberrant skeletal formation, such as

Prenatal diagnosis of Apert syndrome.

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Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report

Unique case of growth hormone (GH) deficiency accompanied by clinical anophthalmia, hypoplastic orbits, digital dysplasia, short stature, obesity, and diabetes mellitus.

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A 43-year-old female was admitted to our hospital for polydipsia and hyperglycemia. She had total blindness and globes were not recognized by inspection, indicating clinical anophthalmia. Physical examination revealed short stature, obesity, prematurely gray hair, shortness of fingers and toes,

Ectodermal dysplasias: the p63 tail.

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Various combinations of limb anomalies, ectodermal dysplasias and orofacial clefts characterize heterozygous mutations in the transcription factor gene p63. The causative gene is crucial during embryonic ontogenesis, mostly in the development of limbs and other ectodermal derived tissues. The

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