Journal of Medical Genetics articles from April 2003

Journal of Medical Genetics archives from April 2003

Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. (Original Article).
April 1, 2003... Cohen syndrome is a rare, recessively inherited condition associated with facial dysmorphism, developmental delay, and visual disability. A delay in making the diagnosis commonly occurs, contributed to by the lack of a definitive molecular...

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. (Original Article).
April 1, 2003... Recessive mutations of SLC26A4 (PDS) are a common cause of Pendred syndrome and non-syndromic deafness in western populations. Although south and east Asia contain nearly one half of the global population, the origins and frequencies of...

The imprinted region on human chromosome 7q32 extends to the carboxypeptidase A gene cluster: an imprinted candidate for Silver-Russell syndrome. (Original Article).
April 1, 2003... Imprinted gene(s) on human chromosome 7q32-qter have been postulated to be involved in intrauterine growth restriction associated with Silver-Russell syndrome (SRS) as 7-10% of patients have mUPD(7). Three imprinted genes, MEST, MESTITI, and...

Expression of cell surface transmembrane carbonic anhydrase genes CA9 and CA12 in the human eye: overexpression of CA12 (CAXII) in glaucoma. (Orginal Article).
April 1, 2003... Purpose: Carbonic anhydrase enzymes (CAs) are universally involved in many fundamental physiological processes, including acid base regulation and fluid formation and movement. In glaucoma patients, CA inhibitors are very effective in...

Similar hereditary motor neuropathies are not allelic disorders. (ECHO).
April 1, 2003... A study in two families has suggested that different forms of peroneal muscular atrophy with vocal chord paralysis are caused by a separate gene or genes and not by an allele of the gene predisposing to one form--distal hereditary motor...

Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. (Original Article).
April 1, 2003... Congenital cataracts are a major cause of bilateral visual impairment in childhood. We mapped the gene responsible for autosomal congenital cerulean cataracts to chromosome 2q33-35 in a four generation family of Moroccan descent. The maximum...

Chromosome 2 (2p16) abnormalities in Carney complex tumours. (Original Article).
April 1, 2003... Carney complex (CNC) is an autosomal dominant multiple endocrine neoplasia and lentiginosis syndrome characterised by spotty skin pigmentation, cardiac, skin, and breast myxomas, and a variety of endocrine and other tumours. The disease is...

Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12. (Short Report).
April 1, 2003... Hearing impairment (HI) is the most frequent sensory defect with wide genetic heterogeneity. Approximately 80% of genetic hearing loss is non-syndromic and 15-25% of exhibit autosomal dominant inheritance. We analysed an Italian three...

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3. (Short Report).
April 1, 2003... Desbuquois dysplasia is a rare autosomal recessive chondrodysplasia characterised by short stature, joint laxity, facial dysmorphism, a "Swedish key" appearance of the proximal femur, advanced carpal and tarsal bone age, and hand anomalies...

Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions. (Letter to JMG).
April 1, 2003... Sotos syndrome (MIM 117550) is a congenital developmental disorder characterised by overgrowth and advanced bone age in infancy to early childhood, mental retardation, and various minor anomalies such as macrocephaly, prominent forehead,...

A copper treatable Menkes disease mutation associated with defective trafficking of a functional menkes copper ATPase. (Letter to JMG).
April 1, 2003... Copper dependency in humans is most dramatically illustrated in Menkes disease, an X linked recessive copper deficiency disorder that is generally lethal in early childhood. (1, 2) Menkes disease is caused by mutations in a transmembrane...

Inflammation, genetics, and longevity: further studies on the protective effects in men of IL-10-1082 promoter SNP and its interaction with TNF-[alpha] -308 promoter SNP. (Letter to JMG).
April 1, 2003... Ageing is associated with chronic, low grade inflammatory activity leading to long term tissue damage, and systemic chronic inflammation has been found to be related to mortality risk from all causes in older persons. (1) Also, the genetic...

Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood? (Letter to JMG).
April 1, 2003... Obesity is a symptom of diagnostic value in multiple congenital anomaly-mental retardation syndromes. While acquired non-specific weight gain related to drug intake or associated behavioural disorders occasionally occurs in the course of...

Corrections.
April 1, 2003... In the May 2002 issue of the journal, in the paper by Evans et at on "Malignant peripheral nerve sheath tumours in neurofibromatosis 1", the Kaplan Meier curve published in the article was an analysis from birth to current age or death rather...