A defect in the regional deposition of adipose tissue (partial lipodystrophy) is encoded by a gene at chromosome 1q

Article Abstract:

Partial lipodystrophy (PLD), or Dunnigan-Kobberling syndrome, is a defect in regional depositing of adipose tissue. New data including conclusive evidence for linkage of the PLD locus to microsatellite markers on chromosome 1q21 and no evidence of heterogeneity are important for the effort to characterize and isolate the PLD gene. The syndrome is transmitted as a highly penetrant autosomal dominant disorder characterized by having no fat tissue in limbs and trunk areas and having fat retained on the face, at periserous sites, and in retro-orbital space. It is more evident in females than in males. Metabolic syndrome X is associated. A genomewide search was done with two multigeneration families with a total of 18 members. .

Physiological aspects, Adipose tissues, Adipose tissue, Fat cells, Adipocytes, Metabolic diseases

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A missense mutation in the human connexin50 gene (GJA8 (ital)) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q

Article Abstract:

A missense mutation in the human connexin50 gene (GJA8(ital)) on chromosome 1q brings on autosomal dominant "zonular pulverulent" cataract. Genetic refinement of the CZP1 (ital) locus has been undertaken successfully. LInkage analysis was undertaken using microsatellite markers on two distantly related branches of the original eight-generation Ev. pedigree. Evidence now exists for the genetic defect thought to underlie the first inherited disease to be linked to a human autosome.

United States, Cataract, Cataracts

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A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q23-25

Article Abstract:

Cerebral palsy of the genetic type has a higher incidence in more inbred populations. Consanguineous families with more than one child affected by symmetrical spastic cerebral palsy have been clinically characterized with the goal of finding recessive genes that bring on the condition. Eight families were studied and a proportion of autosomal recessive symmetrical spastic cerebral palsy mapped to chromosome 2q24-25.

Cerebral palsy, Spasticity

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