Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome

Article Abstract:

Homozygous missense mutations in the dorsoventral-patterning gene WNT7A are found in the families with Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromes and their functional significance in retroviral-mediated transfection of chicken mesenchyme cell cultures and developing limbs are confirmed. A partial loss of WNT7A function causes Fuhrmann syndrome, whereas the more-severe limb truncation phenotypes observed in Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome have resulted from null mutations.

Genetic research, Ectromelia

---

Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome

Article Abstract:

An investigation conducted on two large Han Chinese families with distinctive limb malformations indicates the existence of genotype-phenotype correlation for the limb morphopathies caused by HOXD13 mutations. However, the same minor malformations may be associated with the different limb clinical abnormalities and therefore different limb malformations due to distinct classes of HOXD13 mutations should be considered a continuum of phenotypes.

China, Health aspects, Han (Chinese people)

---

A new subtype of Brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN

Article Abstract:

The article describes the identification of six different point mutations (P35A, P35S, A36P, E48K, R167G, and P187S) in the bone morphogenetic protein (BMP) antagonist NOGGIN (NOG).

Protein research

Similar abstracts:

• Abstracts: Rottlerin inhibits chlamydial intracellular growth and blocks chlamydial acquisition of sphingolipids from host cells
• Abstracts: Detection and identification by PCR of a highly virulent phylogenetic subgroup among extraintestinal pathogenic Escherichia coli B2 strains
• Abstracts: Localization and visualization of a Coxiella-type symbiont within the lone star tick, Amblyomma americanum. Highly prevalent Coxiella sp. bacterium in the tick vector Amblyomma americanum
• Abstracts: Isolation and characterization of Vibrio tubiashii outer membrane proteins and determination of a toxR homolog
• Abstracts: Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.