We describe a family with a novel, inherited AXIN2 mutation (c.1989G>A) segregating in an autosomal dominant pattern with oligodontia and variable other findings including colonic polyposis, gastric polyps, a mild ectodermal dysplasia phenotype with sparse hair and eyebrows, and early onset colorectal and breast cancers. This novel mutation predicts p.Trp663X, which is a truncated protein that ...

A family is described in which four subjects in two sibships had typical split hand/foot malformation. The possibility of the existence of a rare autosomal recessive form of the malformation is discussed, as well as a two locus model. In the two locus model the dominant mutation leading to the split hand/foot malformation is controlled by a gene at another locus. A dominant mutation at the cont...

autosomal dominant congenital cataract (adcc) is the most common form of inherited cataracts and accounts for one-third of congenital cataracts. heterozygous null mutations in the crystallin genes are the major cause of the adcc. this study aims to detect the mutational spectrum of four crystallin genes, cryba1/a3 , crybb1 , crybb2 and crygd in an iranian family. genomic dna was isolated from w...

diseases of the motor unit are common in children. these diseases are mostly genetically determined. cmt represents a clinically heterogeneous group of disorders caused by aberration of the intimate relationship between the schwann cell sheath and the neural axon, ultimately resulting in axonal death and muscular dennervation. a simple clinical classification of cmt (demyelinating versus axonal...

Two closely related genes, the presenilins ( PS ), located at chromosomes 14q24.3 and 1q42.1, have been identified for autosomal dominant Alzheimer disease (AD) with onset age below 65 years (presenile AD). We performed a systematic mutation analysis of all coding and 5'-non-coding exons of PS -1 and PS -2 in a population-based epidemiological series of 101 unrelated familial and sporadic prese...

SLC16A12 is a recently identified creatine transporter of unknown physiological function. A heterozygous mutation in the human gene causes juvenile cataracts and reduced plasma guanidinoacetate (GAA) levels with an increased fractional urinary excretion GAA. Our study transgenic SLC16A12-deficient rats reveals that critical for tubular reabsorption GAA kidney. data furthermore indicate dominant...

familial adenomatous polyposis (fap) is responsible for < 1% of colorectal cancer (crc) cases and is inherited as an autosomal dominant trait. patients generally present hundreds to thousands of adenomas and develop colorectal cancer by age 35- 40 if left untreated. here we report four patients with germline frameshift mutation (small deletion) at exon 15 of adenomatous polyposis coli (apc) tum...

PURPOSE The 208delG (c.72delG, p.Thr25GlnfsX120) mutation in the FSCN2 gene was reported to cause autosomal dominant retinitis pigmentosa (ADRP) and autosomal dominant macular degeneration (ADMD). The purpose of this study was to detect the 208delG mutation in Chinese individuals, with or without hereditary retinal degeneration. METHODS DNA fragments encompassing the 208delG mutation were amp...

fibrodysplasia ossificans progressiva (fop, mim 135100) is a rare genetic disease that is often inherited sporadically in an autosomal dominant pattern. the disease manifests in early life with malformed great toes and, its episodic and progressive bone formation in skeletal muscle after trauma is led to extra-articular ankylosis. in this study, a 17 year-old affected girl born to a father with...