Genetics and Inheritance in Genetic Disorders

Printable version

SYNDROME GENETIC ASSOCIATION (S) INHERITANCE PATTERN
Alagille Jagged-1 (JAG1), 20p12

AD

Barth Tafazzin (TAZ, G4.5), Xq28

X-linked

Cat- Eye DGCR, dup 22q11.1, isodicentric chrom 22

AD

CHARGE (acronym) Numerous loci, CHD7 (chromodomain helicase DNA binding protein 7), 8q12.1 
 

Unknown, AD

Down (Tri 21) Trisomy 21 (47, +21)

Sporadic, 5% = unbalanced Robertsonian translocation

Duchenne Muscular Dystrophy Dystrophin (DMD), Xp21.2

X-linked rec.

Edwards (Tri 18) Trisomy 18 (47, +18)

Sporadic

Ehlers-Danlos (Multiple types) Collagen, numerous loci Procollagen, 1p36.3

AD, AR, X-linked rec.

Ellis-Van Creveld EVC protein (EVC), 4p16

AR

Fabry disease GLA gene, Xq22.1, alpha-galactosidase A, enzyme deficiency X-linked recessive
Friedrich's Ataxia Frataxin (FRDA), 9q13

AR

Goldenhar's syndrome - Hemifacial Microsomia - Oculoauriculo-vertebral Dysplasia Unknown

Sporadic, occasional AD

Heterotaxy (multiple types) Numerous loci

Kartagener's : AR, Ivemark: occasional AR but most cases sporadic, Isolated situs: Unknown

Holt-Oram T-box transcription factor (TBX5), 12q24.1

AD

Homocystinuria Methylenetetrahydrofolate reductase (MTHFR), 1p36.3

AR

Hurler (MPS I) Alpha-L-Iduronidase (IDUA), 4p16.3

AR

Jacobsen Deletion 11q25 (BARX2), Deletion 11q23.3

AD

Jervell-Lange-Nielsen Long QT, numerous loci

AR

Kabuki Unknown

Sporadic

LEOPARD (acronym) Protein-tyrosine phosphatase, non-receptor type (PTPN), 12q24.1

AD

Marfan Fibrillin (FBN1), 15q21.1

AD

Mitochondrial DNA-Associated Leigh and NARP syndromes Numerous mitochondrial loci

Mitochondrial

Myoclonic Epilepsy Associated with Ragged-Red Fibers (MERRF) Mitochondrial tRNA lysine (MTTK), mitochondrial

Mitochondrial

Myotonic dystrophy Myotonin-protein kinase (DMPK), 19q13.2 Cellular nucleic acid binding protein (ZNF9), 3q13.3

AD

Noonan Protein-tyrosine phosphatase, non-receptor type (PTPN), 12q24.1
PTPN11 (tyrosine protein phosphatase non-receptor type 11) 12p24.1
KRAS (GTPase KRas) 12p12.1
SOS1 (son of sevenless homolog 1) 2p22-p21
RAF1 (RAF proto oncogene serine/threonine protein kinase) 3p25
other unidentified genes

AD

Osteogenesis imperfecta (multiple types) numerous loci

AD, AR

Patau (Tri 13) Trisomy 13 (47, +13)

Sporadic

Pompe's disease (Acid Maltase Deficiency) Lysosomal Alpha-Glucosidase (GAA), 17q25

AR

Rubenstein-Taybi CREB-binding protein (CREBBP), 16p13.3

AD, Sporadic

Treacher-Collins Treacle protein (TCOF1), 5q32

AD

Tuberous sclerosis Hamartin (TSC1), 9q34 Tuberin (TSC2), 16p13.3

AR

Turner Unisomy X (45, X)

Sporadic

VACTERL (acronym) Numerous loci

Unknown

VCFS (acronym) also called 22q11, DiGeorge, Shprintzen DGCR, del 22q11.1, 10p13-p14

AD

Williams Elastin (ELN), 7q11

AD

 

Last Update 12-31-2007

[Top pf Page]

References
1. Burn, John and Judith Goodship. Principles and Practice of Medical Genetics. 3rd ed.  New York, NY: Churchill Livingstone, 1996.
2. Harper, Peter S.  Practical Genetic Counseling. 5th ed. Reed Educational and Professional Publishing, 1998
3. Jones, Kenneth L. Smith’s Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, PA: W.B. Saunders Company, 1997
4. Robinson, Arthur and Mary G. Linden. Clinical Genetics Handbook. Blackwell Scientific Publication, Inc., 1993
5. Website: OMIM (Online Mendelian Inheritance in Man)
6. Website: Genetests