Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes

Article Abstract:

A report is presented on the exclusion of the leukemia inhibitory factor receptor gene in Crisponi syndrome and the identification of homozygote or compound heterozygote cytokine receptor-like factor 1 (CRLF1) mutations in four children from three unrelated families. The identification of CRLF 1 mutations in Crisponi syndrome supports the key role of the CNTFR pathway in the function of the autonomic nervous system.

Bones, Diseases, Face, Musculoskeletal abnormalities, Facial muscles

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Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis

Article Abstract:

Missense mutations are identified in the oncostatin M-specific receptor (OSMR) gene which encodes the oncostatin M receptor beta (OSMRbeta) in three families. It is observed that the OSMR data in individuals with family primary localized cutaneous amyloidosis (FPLCA) represent the first human germline mutations in the cytokine receptor complex.

Causes of, Amyloidosis

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A gene for Meckel syndrome maps to chromosome 11q13

Article Abstract:

Studies have mapped occurrences of Meckel syndrome (MKS) to a different chromosome locus than that posited by previous studies. Prior research in Finland mapped MKS to chromosome 17q21-q24, but subsequent studies in Africa and the Middle East map to chromosome 11q13. This suggests a genetic heterogeneity for incidences of MKS.

Genetic disorders, Lethal mutation, Encephalocele

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