Genetic Disorders: Causes and Characteristics

Genetic Disorders: Causes and Characteristics

Single-Gene Genetic Disorders:

• Cystic fibrosis: Autosomal recessive inheritance, caused by mutations in the CFTR gene on chromosome 7.

• Phenylketonuria (PKU): Autosomal recessive inheritance, caused by mutations in the PAH gene on chromosome 12.

• Sickle cell anemia: Autosomal recessive inheritance, caused by mutations in the beta-globin gene on chromosome 11.

• Myotonic dystrophy type 1: Autosomal dominant inheritance, caused by mutations in the DMPK gene on chromosome 19.

• Albinism: Autosomal recessive inheritance, caused by mutations in the OCA gene on chromosomes 11 or 15.

• Huntington’s disease: Autosomal dominant inheritance, caused by mutations in the HD gene on chromosome 4.

• Achondroplasia: Autosomal dominant inheritance, caused by mutations in the FGFR3 gene on chromosome 4.

• Neurofibromatosis type 1: Autosomal dominant inheritance, caused by mutations in the NF1 gene on chromosome 17.

• Marfan syndrome: Autosomal dominant inheritance, caused by mutations in the FBN1 gene on chromosome 15.

• Autosomal dominant polycystic kidney disease (ADPKD): Autosomal dominant inheritance, caused by mutations in the PKD1 (on chromosome 16) or PKD2 (on chromosome 14) gene.

• Osteogenesis imperfecta: Autosomal dominant inheritance, caused by mutations in the COL1A1 (on chromosome 17) or COL1A2 (on chromosome 7) gene.

• Hemophilia A: X-linked recessive inheritance, caused by mutations in the F8 gene.

• Hemophilia B: X-linked recessive inheritance, caused by mutations in the F9 gene.

• Duchenne muscular dystrophy: X-linked recessive inheritance, caused by mutations in the DMD gene.

• Incontinentia Pigmenti: X-linked dominant inheritance, caused by mutations in the IKBKG gene.

• Hypophosphatemic rickets: X-linked dominant inheritance, caused by mutations in the PHEX gene.

Sex Chromosome Disorders:

• Turner syndrome: Caused by sex chromosome aneuploidy, genotype 45,X.

• Klinefelter syndrome: Caused by sex chromosome aneuploidy, genotype 47,XXY.

• Triple X syndrome: Caused by sex chromosome aneuploidy, genotype 47,XXX.

Chromosome Number Disorders:

• Down syndrome: Trisomy of chromosome 21.

• Edwards syndrome: Trisomy of chromosome 18.

• Patau syndrome: Trisomy of chromosome 13.

Chromosome Structure Disorders:

• Prader-Willi syndrome: Deletion of 15q11-13 involving the genomic imprinting region.

• Angelman syndrome: Imprinting defect of Prader-Willi syndrome.

• DiGeorge syndrome: Microdeletion of 3Mb at 22q11.2.

• Wolf-Hirschhorn syndrome: Deletion of the short arm of chromosome 4.

• Cri du chat syndrome: Deletion of the short arm of chromosome 5.

Multifactorial Genetic Disorders:

• Goldenhar syndrome: Multifactorial inheritance.

• Apert syndrome: Caused by mutations in the FGFR2 gene at 10q26.13.

• Crouzon syndrome: Caused by mutations in the FGFR2 or FGFR3 gene.

Other Disorders:

• G6PD deficiency: X-linked recessive inheritance.

• Leber hereditary optic neuropathy (LHON): Mitochondrial inheritance, caused by mutations in the LHON gene.

• Hyperlipidemia: Caused by mutations in the PCSK9 gene.

• Tay-Sachs disease: Caused by mutations in the HEXA gene.

Note: This list is not exhaustive. Many other genetic disorders are not mentioned.

Additional Information:

• Apert syndrome can be differentiated from Crouzon syndrome by the presence of syndactyly (fused fingers or toes), which is only present in Apert syndrome.

• Williams syndrome is a microdeletion syndrome.

• Smith-Magenis syndrome is a microdeletion syndrome.

• Cat eye syndrome is a microduplication syndrome.

This information is for general knowledge and should not be considered medical advice. If you have any questions about genetic disorders, please consult a healthcare professional for accurate advice.