Acromesomelic dysplasia Maroteaux type (AMDM) is an autosomal recessive disorder belonging to the group of acromesomelic dysplasias. AMDM is characterised by severe dwarfism with shortening of the middle and distal segments of the limbs. An AMDM gene has recently been mapped to human chromosome 9p13-q12 by homozygosity mapping in four consanguineous families. Here, we show linkage of the diseas...

Cerebral palsy (CP) is defined as any nonprogressive motor deficits resulting from cerebral abnormalities that occur in the prenatal or perinatal period. Symptoms become apparent during the first year of life. Genetic forms of CP account for about 2% in European populations but are thought to cause a substantial proportion in consanguineous families. We have identified a large consanguineous fa...

Aims: To identify the proportion of familial cases of isolated ocular colobomatous malformations in a case series from south India. Methods: Children with ocular coloboma without systemic features were recruited from multiple sources in Andhra Pradesh, India. Their families were traced, pedigrees drawn, and family members examined. Results: 56 probands, 25 females (44.6%) and 31 males (57.4%) w...

The primary cause of aplastic anemia remains unknown in many patients. The aim of this study was to clarify the genetic cause of familial aplastic anemia. Genomic DNA of an affected individual from a multiplex consanguineous family was hybridized to a Nimblegen exome library before being sequenced on a GAIIx genome analyzer. Once the disease causing homozygous mutation had been confirmed in the...

AIMS To identify the proportion of familial cases of isolated ocular colobomatous malformations in a case series from south India. METHODS Children with ocular coloboma without systemic features were recruited from multiple sources in Andhra Pradesh, India. Their families were traced, pedigrees drawn, and family members examined. RESULTS 56 probands, 25 females (44.6%) and 31 males (57.4%) ...

BACKGROUND Previous studies suggest that British children of South Asian origin are less active and more sedentary than White British children. However, little is known about the behaviours underlying low activity levels, nor the familial contexts of active and sedentary behaviours in these groups. Our aim was to test hypotheses about differences between British Pakistani and White British girl...