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Murray Feingold

Publications and source records attributed to Murray Feingold.

7 recordsLinked to original sources
PubMed2006

Thirty-two year follow-up of the first patient reported with the Floating-Harbor syndrome.

A 32-year follow-up of the first patient reported with the Floating-Harbor syndrome is discussed. He has been in good overall health. His facial appearance, a hallmark of this syndrome, had remained fairly characteristic except for some changes secondary to age. While he does have mild to moderate mental retardation, he has been employed for the past 15 years. Because no laboratory tests are presently available to diagnose the Floating-Harbor syndrome, the author recommends that the typical facial features present in the first two patients reported with this syndrome be present before the diagnosis can be made.

Abnormalities, Multiple↗
PubMed2003

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.

Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive conditions characterized by multiple subcutaneous skin nodules, gingival hypertrophy, joint contractures, and hyaline deposition. We previously mapped the gene for JHF to chromosome 4q21. We now report the identification of 15 different mutations in the gene encoding capillary morphogenesis protein 2 (CMG2) in 17 families with JHF or ISH. CMG2 is a transmembrane protein that is induced during capillary morphogenesis and that binds laminin and collagen IV via a von Willebrand factor type A (vWA) domain. Of interest, CMG2 also functions as a cellular receptor for anthrax toxin. Preliminary genotype-phenotype analyses suggest that abrogation of binding by the vWA domain results in severe disease typical of ISH, whereas in-frame mutations affecting a novel, highly conserved cytoplasmic domain result in a milder phenotype. These data (1) demonstrate that JHF and ISH are allelic conditions and (2) implicate perturbation of basement-membrane matrix assembly as the cause of the characteristic perivascular hyaline deposition seen in these conditions.

Amino Acid Sequence↗