A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 1q21.2-q21.3

Article Abstract:

A locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease (ARCMT2), , is discussed. The disease maps to chromosome 1q21.2-q21.3 based on a study of a large consanguineous Moroccan ARCMT2 family with nine sibs affected. The disease is known to be clinically, neuropathologically, electrophysiologically, and genetically heterogeneous and actually is a group of peripheral nervous system disorders. CMT is the most common, hereditary motor/sensory neuropathy, but the ARCMT2 type is very rare and is found in families with established consanguinity only.

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Chromosome 6-linked autosomal recessive early-onset Parkinsonism: linkage in European and Algerian families, extension of the clinical spectrum, and evidence of a small homozygous deletion in one family

Article Abstract:

Chromosome 6-linked autosomal recessive early-onset Parkinsonism, or autosomal recessive juvenile Parkinsonism (AR-JP), has been shown to be linked to chromosome 6q25.2-27 in Japanese families and now in 10 European multiplex families and one Algerian family, with marker D6S305. In one family there is evidence of a small homozygous deletion. The clinical spectrum with maximum age at onset of 58 years and presence of painful dystonia in some patients was found in the study of the European and Algerian families to be broader than previously reported.

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A human homologue of the Drosophila melanogaster diaphanous (ital) gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility

Article Abstract:

Premature ovarian failure (POF) has been blamed on various things, but a gene that is disrupted by a breakpoint has been identified in a family with POF. The gene is the human homologue of the gene, the Drosophila melanogaster diaphanous (ital) gene, mutated alleles of which affect spermatogenesis or oogenesis and bring sterility. The protein called DIA encoded by the human gene (DIA (ital)) is proposed as a gene that brings POF and affects cell division leading to ovarian follicle formation.

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