IllnessAnencephaly + neural tube-defects; differential diagnosis

NGS +

Anencephaly and neural tube closure defects are complex malformations that are likely caused by the interaction of multiple genetic and environmental factors. Alterations in dozens of genes in fetuses with anencephaly and in their mothers may influence the risk of developing neural tube defects. The best studied gene is MTHFR, which is involved in processing vitamin B9 (folic acid). B9 deficiency is a risk factor for neural tube defects, but many other factors also contribute to folic acid deficiency, including malnutrition. Therefore, the inheritance of neural tube defects and anencephaly is generally multifactorial. Inconspicuous molecular genetic findings tend to be the rule.

Reference: J Dev Biol. 2018 Aug 21;6(3):22. doi: 10.3390/jdb6030022.

• Alias: Anencephalie + Neuralrohr-Defekte
• Alias: Spina bifida ("offener Rücken")
• Allelic: Caudal regression syndrome (VANGL1)
• Allelic: Combined immunodeficiency + megaloblastic anemia with/-out hyperhomocysteinemia (MTHFD1)
• Allelic: Coronary artery disease, modifier of (CCL2)
• Allelic: Craniofacial-deafness-hand syndrome (PAX3)
• Allelic: HIV-1, resistance to (CCL2)
• Allelic: Homocystinuria due to MTHFR deficiency (MTHFR)
• Allelic: Homocystinuria-megaloblastic anemia, cbl E type (MTRR)
• Allelic: Homocystinuria-megaloblastic anemia, cblG complementation type (MTR)
• Allelic: Mycobacterium tuberculosis, susceptibility to (CCL2)
• Allelic: Orofacial cleft 6 (IRF6)
• Allelic: Rhabdomyosarcoma 2, alveolar (PAX3)
• Allelic: Schizophrenia, susceptibility to (MTHFR)
• Allelic: Thromboembolism, susceptibility to (MTHFR)
• Allelic: Vascular disease, susceptibility to (MTHFR)
• Hydrolethalus syndrome (HYLS1)
• Neural tube defects (VANGL2)
• Neural tube defects, folate-sensitive, susceptibility to (MTHFD1)
• Neural tube defects, folate-sensitive, susceptibility to (MTR)
• Neural tube defects, folate-sensitive, susceptibility to (MTRR)
• Neural tube defects, susceptibility to (FUZ)
• Neural tube defects, susceptibility to (MTHFR)
• Neural tube defects, susceptibility to (TBXT, T)
• Neural tube defects, susceptibility to (VANGL1)
• Popliteal pterygium syndrome 1 (IRF6)
• Sacral agenesis with vertebral anomalies (TBXT, T)
• Spina bifida, susceptibility to (CCL2)
• Waardenburg syndrome, type 1 (PAX3)
• Waardenburg syndrome, type 3 (PAX3)
• van der Woude syndrome 1 (IRF6)