30 GENETIC OBSTETRICAL SYNDROMES, THEIR CAUSES, & THEIR INHERITANCE PATTERNS

Tuan Tran, M.D., Ph.D.

1. Down syndrome: Caused by the presence of all or part of a third copy of chromosome 21. It is not inherited, but rather occurs as a random event during the formation of reproductive cells in a parent.
2. Turner syndrome: Caused by the absence of all or part of one of the X chromosomes. It is not inherited, but rather occurs as a random event during the formation of reproductive cells in a parent.
3. Klinefelter syndrome: Caused by the presence of one or more extra X chromosomes in males. It is not inherited, but rather occurs as a random event during the formation of reproductive cells in a parent.
4. Fragile X syndrome: Caused by a mutation in the FMR1 gene. It is inherited in an X-linked dominant pattern.
5. Cystic fibrosis: Caused by mutations in the CFTR gene. It is inherited in an autosomal recessive pattern.
6. Sickle cell anemia: Caused by a mutation in the HBB gene. It is inherited in an autosomal recessive pattern.
7. Tay-Sachs disease: Caused by a deficiency in the HEXA gene. It is inherited in an autosomal recessive pattern.
8. Hemophilia: Caused by mutations in the F8 or F9 gene. It is inherited in an X-linked recessive pattern.
9. Phenylketonuria (PKU): Caused by mutations in the PAH gene. It is inherited in an autosomal recessive pattern.
10. Gaucher disease: Caused by mutations in the GBA gene. It is inherited in an autosomal recessive pattern.
11. Niemann-Pick disease: Caused by mutations in the SMPD1 gene. It is inherited in an autosomal recessive pattern.
12. Fabry disease: Caused by mutations in the GLA gene. It is inherited in an X-linked dominant pattern.
13. Mucopolysaccharidoses: A group of genetic disorders caused by the absence or malfunctioning of enzymes needed to break down molecules called glycosaminoglycans. They are inherited in an autosomal recessive pattern.
14. Hereditary hemochromatosis: Caused by mutations in the HFE gene. It is inherited in an autosomal recessive pattern.
15. Marfan syndrome: Caused by mutations in the FBN1 gene. It is inherited in an autosomal dominant pattern.
16. Neurofibromatosis: Caused by mutations in the NF1 or NF2 gene. It is inherited in an autosomal dominant pattern.
17. Polycystic kidney disease: Caused by mutations in the PKD1 or PKD2 gene. It is inherited in an autosomal dominant pattern.
18. Huntington’s disease: Caused by a mutation in the HTT gene. It is inherited in an autosomal dominant pattern.
19. Familial hypercholesterolemia: Caused by mutations in the LDLR, APOB, or PCSK9 gene. It is inherited in an autosomal dominant pattern.
20. Familial adenomatous polyposis: Caused by mutations in the APC gene. It is inherited in an autosomal dominant pattern.
21. Hereditary nonpolyposis colorectal cancer (HNPCC): Caused by mutations in the MLH1, MSH2, MSH6, PMS2, or EPCAM gene. It is inherited in an autosomal dominant pattern.
22. Von Hippel-Lindau disease: Caused by mutations in the VHL gene. It is inherited in an autosomal dominant pattern.
23. Li-Fraumeni syndrome: Caused by mutations in the TP53 gene. It is inherited in an autosomal dominant pattern.
24. Multiple endocrine neoplasia: A group of genetic disorders caused by mutations in the RET, MEN1, or CDKN1B gene. It is inherited in an autosomal dominant pattern.
25. Hereditary breast and ovarian cancer syndrome: Caused by mutations in the BRCA1 or BRCA2 gene. It is inherited in an autosomal dominant pattern.
26. Charcot-Marie-Tooth disease: Caused by mutations in various genes. It can be inherited in an autosomal dominant, autosomal recessive, or X-linked dominant pattern.
27. Myotonic dystrophy: Caused by mutations in the DMPK or CNBP gene. It is inherited in an autosomal dominant pattern.
28. Friedreich’s ataxia: Caused by mutations in the FXN gene. It is inherited in an autosomal recessive pattern.
29. Spinal muscular atrophy: Caused by mutations in the SMN1 or SMN2 gene. It is inherited in an autosomal recessive pattern.
30. Duchenne muscular dystrophy: Caused by mutations in the DMD gene. It is inherited in an X-linked recessive pattern.

SOURCE:

ACOG TECHNOLOGY ASSESSMENT IN OBSTETRICS AND GYNECOLOGY. VOL. 132, NO. 3, SEPTEMBER 2018