Journal of Medical Genetics articles from February 2002

Journal of Medical Genetics archives from February 2002

Current status of human chromosome 14. (Review Article).
February 1, 2002... Over the past three decades, extensive genetic, physical, transcript, and sequence maps have assisted in the mapping of over 30 genetic diseases and in the identification of over 550 genes on human chromosome 14. Additional genetic disorders...

Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. (Original Article).
February 1, 2002... Van Buchem disease (MIM 239100) is a disorder of the skeleton inherited as an autosomal recessive trait which, according to Beighton, (1) belongs to the group of craniotubular hyperostoses. The condition was first described by van Buchem et...

The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly. (Original Article).
February 1, 2002... E F P M Schoenmakers (*) Molecular analysis of the reciprocal chromosomal translocation t(12;22)(pl1.2;ql3.3) cosegregating with a complex type of synpolydactyly showed involvement of an alternatively spliced exon of the fibulin-1 gene...

A locus for isolated cataract on human Xp. (Original Article).
February 1, 2002... Purpose: To genetically map the gene causing isolated X linked cataract in a large European pedigree. Methods: Using the patient registers at Birmingham Women's Hospital, UK, we identified and examined 23 members of a four generation...

Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD 1 maps to 20p 13. (Short Report).
February 1, 2002... The association of congenital corneal dystrophy with teenage onset perceptive hearing loss (Harboyan syndrome) has been reported in two sibships, one with consanguineous parents, which were consistent with autosomal recessive transmission. We...

Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(pl1.2;q22.3) and non-syndromic mental retardation. (Short Report).
February 1, 2002... Non-syndromic X linked mental retardation (MRX) is a heterogeneous group of conditions in which all patients have mental retardation as the only constant phenotypic feature. We have identified a female patient with mental retardation and a...

A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36. (Letters to JMG).
February 1, 2002... High myopia often appears as a familial disease. It is usually defined as a refraction error equal to or below -6 diopters (D) in each eye. (1) Highly myopic patients represent 27-33% of the myopic population. (2) The prevalence of the...

Supportive evidence for the DYX3 dyslexia susceptibility gene in Canadian families. (Letters).
February 1, 2002... A previous report in the Journal by Fagerheim et al (1) identified a dyslexia locus (DYX3) on chromosome 2p15-p16 in a large Norwegian family with autosomal dominant inheritance of dyslexia. Parametric linkage analyses using three diagnostic...

Unique de nova mutation of BRCA2 in a woman with early onset breast cancer. (Letters).
February 1, 2002... Although it is widely stated that 5-10% of all breast cancers arise as the result of an inherited predisposition, the prevalence of mutations in BRCA1 or BRCA2 in unselected ascertainments of women with breast cancer is somewhat lower. In two...

A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation. (Letters).
February 1, 2002... Congenital kyphomelia, or bowing of the femora, is associated with a number of skeletal dysplasias that include campomelic dysplasia, Stuve-Wiedemann dysplasia, Bruck syndrome, Antley-Bixler syndrome, Fuhrmann syndrome, and osteogenesis...

Functional characterisation of MeCP2 mutations found in male patients with X linked mental retardation. (Letters).
February 1, 2002... Rett syundrome (1) is a neurodevelopmental disorder that primarily affects females and is characterised by a period of normal growth and development, followed by severe neurological dysfunction including dementia, autistic features, loss of...

Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome. (Letters).
February 1, 2002... The acrofacial dysostoses (AFD) are a heterogeneous group of disorders characterised by defects in craniofacial and limb development. The hallmarks include downward slanting palpebral fissures, malar hypoplasia, and receding chin...

Partial trisomy 9p12p21.3 with a normal phenotype. (Letters).
February 1, 2002... Partial trisomy or tetrasomy of the short arm of chromosome 9 are among the most common autosomal structural chromosomal anomalies in humans, so the phenotype-genotype correlation of these aneusomies has been well described. Characteristic...

Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome? (Letters).
February 1, 2002... Neural tube defects are usually multifactorial. They can also be associated with a number of underlying monogenic or chromosomal conditions. These include autosomal recessive disorders, such as Meckel-Gruber, Roberts, and Walker-Warsburg...

Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: a "Sotos-like" syndrome? (Letters).
February 1, 2002... Sotos syndrome (MIM 117550) is an overgrowth syndrome first described by Sotos et al (1) in 1964 with over 200 cases reported to date. The syndrome is characterised by pre-and postnatal overgrowth, macrocephaly, advanced bone age, and...