Fanconi anemia complementation group Q

Fanconi Anemia Complementation Group Q (FANCQ)

Fanconi anemia complementation group Q, also known as FANCQ, is a rare genetic disorder characterized by bone marrow failure, congenital malformations, and increased risk for malignancy. It is caused by compound heterozygous mutations in the ERCC4 gene on chromosome 16p13.

Key Features:

• Bone marrow failure
• Congenital malformations (present in approximately 75% of affected individuals)
  • Short stature
  • Abnormal skin pigmentation
  • Skeletal malformations of the upper and/or lower limbs
  • Microcephaly
  • Ophthalmic and genitourinary tract anomalies
• Increased risk for malignancy

Genetic Basis:

FANCQ is caused by mutations in the ERCC4 gene, which plays a crucial role in DNA repair. The compound heterozygous mutation leads to impaired DNA repair mechanisms, resulting in genomic instability and increased cancer risk.

References:

[1] (Context 2) - Fanconi anemia of complementation group Q (FANCQ) is caused by compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. [8] - A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. [1]. [14] - Disease Ontology Description: A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome ...

Common Signs and Symptoms of Fanconi Anemia Complementation Group Q

Fanconi anemia (FA) is a rare genetic disorder that affects the body's ability to repair DNA damage, leading to various physical abnormalities, bone marrow failure, and increased risk for malignancy. The complementation group Q is one of the many subtypes of FA.

Physical Abnormalities

Individuals with Fanconi anemia complementation group Q may experience a range of physical abnormalities, including:

• Short stature [11]
• Abnormal skin pigmentation
• Skeletal malformations of the upper and/or lower limbs
• Microcephaly (small head size)
• Ophthalmic and genitourinary tract anomalies

Bone Marrow Failure

Fanconi anemia complementation group Q is characterized by bone marrow failure, which can lead to:

• Anemia: fatigue, lassitude, dyspnea [15]
• Thrombocytopenia: bruises, petechiae
• Neutropenia: infections

Increased Risk for Malignancy

Individuals with Fanconi anemia complementation group Q have a higher risk of developing cancer and leukemia due to their compromised DNA repair mechanisms.

Other Signs and Symptoms

Additional signs and symptoms may include:

• Abnormalities of the brain and spinal cord (central nervous system), including increased fluid in the center of the brain [7]
• Developmental disabilities
• Congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities [4]

Median Lifespan

The current median lifespan for individuals with Fanconi anemia complementation group Q is 33 years, although this can vary depending on the specific subtype and individual factors.

References:

[1] - Not available in context [4] - Context #4 [7] - Context #7 [11] - Context #11 [15] - Context #15

Diagnostic Tests for Fanconi Anemia Complementation Group Q

Fanconi anemia complementation group Q (FANCQ) is a rare genetic disorder that affects the body's ability to repair DNA damage. Diagnosing FANCQ can be challenging, but several clinical and molecular tests are available to help identify this condition.

Clinical Tests

• Complete Blood Count (CBC): A CBC may reveal trilineage pancytopenia or macrocytic red blood cells for age [5].
• Bone marrow examination: This test can show signs of bone marrow failure, which is a hallmark of FANCQ [9].

Molecular Genetics Tests

• Deletion/duplication analysis: This test can identify deletions or duplications in the ERCC4 gene, which causes FANCQ [1].
• Targeted variant analysis: This test can detect specific mutations in the ERCC4 gene that are associated with FANCQ [1].

Other Diagnostic Tests

• Cytogenetic quantitation of chromosomal breakage: This test measures the number of chromosomal breaks in response to diepoxybutane (DEB) or mitomycin C (MMC), which can help diagnose FANCQ [8].
• Skin fibroblast testing: This test can be used to evaluate Fanconi anemia diagnosis on skin fibroblasts from a cohort of patients [7].

References

[1] Clinical Genetic Test offered by Intergen for conditions (1): Fanconi anemia complementation group Q; Testing genes (1): ERCC4 (16p13.12) [2]. [5] Jul 8, 2022 — In Fanconi anemia, the complete blood count (CBC) may reveal trilineage pancytopenia or may only show RBCs that are macrocytic for age [5]. [7] by FO Pinto · 2009 · Cited by 119 — We evaluated Fanconi anemia diagnosis on blood lymphocytes and skin fibroblasts from a cohort of 87 bone marrow failure patients (55 children and 32 adults) [7]. [8] by A Shimamura · 2002 · Cited by 173 — The current diagnostic test for FA consists of cytogenetic quantitation of chromosomal breakage in response to diepoxybutane (DEB) or mitomycin C (MMC). Recent ... [8]. [9] Fanconi anemia, complementation group q is a rare disorder characterized by bone marrow failure, congenital malformations, hypersensitivity to DNA interstrand ... cross-linking agents [9].

Current Treatments for Fanconi Anemia Complementation Group Q

Fanconi anemia complementation group Q (FANCQ) is a rare genetic disorder that affects the body's ability to produce blood cells. While there is no cure for FANCQ, various treatments can help manage its symptoms and improve quality of life.

Current Treatments:

• Androgen Administration: Androgens, such as testosterone, have been used to stimulate bone marrow production in individuals with FANCQ [2].
• Hematopoietic Growth Factors Administration: Growth factors like erythropoietin (EPO) and granulocyte-colony stimulating factor (G-CSF) can help stimulate blood cell production [2].
• Hematopoietic Stem Cell Transplantation (HSCT): HSCT is considered the standard treatment for bone marrow failure in patients with FANCQ. This procedure involves replacing damaged stem cells with healthy ones from a donor or using the patient's own stem cells [7, 9].

Emerging Treatments:

• Gene Therapy: Gene therapy has shown promise in improving bone marrow function in individuals with FANCQ. However, its clinical application is still in the experimental stages [8].
• Chemoprevention: A combination of atorvastatin and celecoxib may be a good candidate for chemoprevention in Fanconi anemia, as suggested by

The differential diagnosis for Fanconi anemia (FA) complementation group D2, not Q, generally includes acquired aplastic anemia, AMT, TAR syndrome as well as VATER/VACTRL (vertebral anomalies, anal atresia, tracheoesophageal fistula, radial and renal dysplasia/limb abnormalities) [7].

In terms of specific conditions that may be considered in the differential diagnosis for FA complementation group D2, these include:

• Acquired aplastic anemia: a condition characterized by bone marrow failure due to immune-mediated destruction of hematopoietic cells.
• AMT (Amegakaryocytic thrombocytopenia): a rare genetic disorder that affects platelet production in the bone marrow.
• TAR syndrome (Thrombocytopenia-absent radius syndrome): a rare congenital disorder characterized by absent or underdeveloped radii, thrombocytopenia, and other physical abnormalities.
• VATER/VACTRL: a rare congenital disorder that affects multiple organ systems, including the vertebrae, anus, trachea, esophagus, radial bones, and kidneys.

It's worth noting that the differential diagnosis for FA complementation group D2 may also include other conditions that are not listed here. A comprehensive evaluation by a qualified healthcare professional is necessary to determine an accurate diagnosis [7].

References: [7] - The differential diagnosis of FA generally includes acquired aplastic anemia, AMT, TAR syndrome as well as VATER/VACTRL (vertebral anomalies, anal atresia, tracheoesophageal fistula, radial and renal dysplasia/limb abnormalities).