SHFM1 Human
Description
SHFM1 is fused to a 23 amino acid His-tag at N-terminus & purified by proprietary chromatographic techniques.
Product Specs
Product Science Overview
Split Hand/Foot Malformation Type 1 (SHFM1) is a rare congenital disorder characterized by the absence or underdevelopment of the central rays of the hands and feet. This condition, also known as ectrodactyly, presents with a variety of limb malformations, including median clefts of the hands and feet, syndactyly (fusion of fingers or toes), and aplasia or hypoplasia of the phalanges, metacarpals, and metatarsals .
SHFM1 is primarily caused by chromosomal rearrangements involving the 7q21.3 region. These rearrangements can include deletions, duplications, or other structural changes that affect the DSS1, DLX5, and DLX6 genes . The condition is typically inherited in an autosomal dominant manner, although it can also occur as a de novo mutation . The DLX5 gene, in particular, plays a crucial role in limb development, and mutations in this gene are a significant contributor to the SHFM1 phenotype .
The clinical presentation of SHFM1 is highly variable, with some individuals exhibiting mild limb abnormalities while others have more severe deformities. Common features include:
- Ectrodactyly: Split hand or foot with missing central digits.
- Syndactyly: Fusion of fingers or toes.
- Aplasia or Hypoplasia: Underdevelopment or absence of bones in the hands and feet.
- Variable Expressivity: The severity and combination of symptoms can vary widely among affected individuals .
In addition to limb abnormalities, some patients with SHFM1 may also experience other anomalies such as hearing loss, craniofacial malformations, and ectodermal dysplasia .
The molecular mechanisms underlying SHFM1 involve disruptions in the normal expression and function of the DLX5 and DLX6 genes. These genes are part of the distal-less homeobox (DLX) gene family, which is essential for the development of the limbs and craniofacial structures . Mutations or chromosomal rearrangements that affect these genes can lead to the abnormal development of the hands and feet, resulting in the characteristic features of SHFM1 .
Diagnosis of SHFM1 is typically based on clinical evaluation and genetic testing to identify mutations or chromosomal abnormalities in the 7q21.3 region . Prenatal diagnosis is also possible through genetic testing of fetal DNA.
Management of SHFM1 is primarily focused on addressing the functional and cosmetic aspects of the limb deformities. This may include surgical interventions to correct syndactyly or other malformations, as well as physical therapy to improve limb function .
