Single Gene Defects
Summary of experience with PGD for single gene defects
(Please note similar protocols can be developed for any known single gene defect)
| Disease | Gene | Cycles | Couples | Births |
|---|---|---|---|---|
| *CMT1A | PMP22 | 1 | 1 | 1 |
| *Congenital fibrosis of extraocular muscles | KIF21A | 1 | 1 | 0 |
| Hand-Foot-Uterus Syndrome/Synpolydactyly | HOXD13-HOXA13 | 2 | 1 | 0 |
| Holt-Oram Syndrome | TBX5 | 1 | 1 | 1 |
| *Huntington disease | HD | 2 | 2 | 2 |
| *Myotonic dystrophy | DMPK | 9 | 5 | 0 |
| Primary dystonia | DYT1 | 3 | 1 | 2 |
| *Neurofibromatosis type1 | NF1 | 4 | 3 | 1 |
| *Retinoblastoma | RB1 | 3 | 1 | 0 |
| Tuberosclerosis 1 | TSC1 | 1 | 1 | 1 |
| Spastic Paraplegia 3 | SPG3A | 1 | 1 | 1 |
| Autosomal Recessive | . | 241 | 157 | 48 |
| * Thalassemia | HBB | 174 | 105 | 32 |
| *Batten's disease | PPT1 | 1 | 1 | 1 |
| *Cystic Fibrosis | CFTR | 33 | 26 | 8 |
| *Congenital adrenal hyperplasia | CYP21A2 | 2 | 2 | 0 |
| Factor VII deficiency | F7 | 1 | 1 | 1 |
| Familial Mediterranean Fever | FMF | 2 | 1 | 0 |
| Gangliosidosis | GLB1 | 1 | 1 | 0 |
| Homocystinuria | MTHFR | 1 | 1 | 1 |
| Mevalonic aciduria | MVK | 1 | 1 | 0 |
| Mucopolysaccharidosis Type IIIA (sanfilippo sydnrome A) | SGSH | 4 | 1 | 0 |
| Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome) | ARSB | 2 | 1 | 1 |
| Niemann-Pick disease | SMPD1 | 1 | 1 | 0 |
| Tay Sachs | HEXA | 1 | 1 | 0 |
| *Sickle cell anemia | HBB | 6 | 3 | 1 |
| *Spinal Muscular Atrophy | SMN | 10 | 10 | 3 |
| X-linked | . | 25 | 15 | 9 |
| Adrenoleukodystrophy | ABCD1 | 2 | 2 | 0 |
| Alpha-Thalassemia mental retardation syndrome | ATRX | 1 | 1 | 0 |
| *Charcot Marie Tooth type X | CMTX | 2 | 1 | 1 |
| Chronic granulomatous disease | CYBB | 1 | 1 | 2 |
| *Duchenne muscular dystrophy | DMD | 5 | 2 | 1 |
| *Fragile-X | FRAXA | 2 | 1 | 0 |
| Glucose-6-phosphate dehydrogenase deficiency | G6PD | 1 | 1 | 0 |
| *Haemophilia A | F8 | 6 | 3 | 3 |
| Haemophilia B | F9 | 3 | 1 | 1 |
| Lesch-Nyhan syndrome | HPRT | 1 | 1 | 0 |
| *Wiskott-Aldrich Syndrome | WAS | 1 | 1 | 1 |
| Specific traits | . | 152 | 82 | 13 |
| HLA matching only | HLA | 30 | 13 | 2 |
| SGD + HLA Matching | HLA | 122 | 69 | 11 |
| Total | . | 446 | 272 | 79 |
| . | . | . | . | . |
A partial list of diseases with established PGD protocols ready to be applied clinically
| Disease | Gene |
|---|---|
| Autosomal Dominant | . |
| Amyloid neuropathy - Andrade disease | TTR |
| Diamond-Blackfan anemia | RPS19 |
| Ectrodactyly ectodermal dysplasia and cleft lip/palate syndrome | p63 |
| Exostoses multiple type I | EXT1 |
| *Li-Fraumeni syndrome | p53 |
| Myotonic dystrophy type 2 | ZNF9 |
| Multiple endocrine neoplasia type I | MEN1 |
| Paramyotonia congenita | SCN4A |
| Polycystic kidney disease type1 | PKD1 |
| Spinocerebellar ataxia 7 | ATXN7 |
| Tuberous sclerosis 2 | TSC2 |
| von Hippel-Lindau sydnrome | VHL |
| Autosomal Recessive | . |
| Agammaglobulinemia non-Bruton type | IGHM |
| Bartter syndrome type 4 | BSND |
| Brugada syndrome - Long QT syndrome-3 | SCN5A |
| Crigler-Najjar syndrome | UGT1A1 |
| Deafness, autosomal recessive | CX26 |
| *Epidermolysis bullosa | COL7A1 |
| Fanconi anemia A | FANCA |
| Fanconi anemia G | FANCG |
| *Gaucher disease | GBA |
| Glutaric acidemia I | GCDH |
| Hypomagnesaemia primary | CLDN16 |
| *Incontinentia pigmenti | NEMO |
| Limb-girdle muscular dystrophy type 2C | SGCG |
| Long QT syndrome-1 | KCNQ1 |
| Methacrylic Aciduria | HIBCH |
| Mucopolysaccharidosis Type IIIB - Sanfilippo syndrome B | NAGLU |
| Noonan syndrome | PTPN11 |
| Pancreatis, hereditary | PRSS1 |
| Polycystic kidney and hepatic disease-1 | PKHD1 |
| Smith-Lemil-Opitz syndrome | DHCR7 |
| Tyrosinaemia type 1 | FAH |
| X-linked | . |
| Duncan disease - X-linked lymphoproliferative syndrome | SH2D1A |
*These conditions have already been licensed at clinic in the UK and only require a decision by the HFEA executive. Other conditions require a full application to the HFEA for approval from a Licence Committee.