Genes Flashcards
USP9Y
AZFa loci at Yq11.2
DDX3Y
AZFa loci at Yq11.2
DAZ
AZFc loci at Yq11.2
DAZL
Autosomal DAZ on 3q
BOULE
Autosomal DAZ on 2q
CFTR
Cystic fibrosis gene located at 7q31. Mutations also implicated in congenital bilateral absence of vas deferens (CBAVDS)
FMR1
Xq27.3. Implicated in fragile X.
PTPN11
12q24. Noonan syndrome (50%)
SOS1
2p21. Noonan syndrome (10-15%)
RAF1
3p25. Noonan syndrome (3-8%)
SOX9
17q24. Deletions can result in XY females.
WNT4
1p36, Dup(1q) associated with XY female development
RSP01
1p34. LOF results in XX masculinisation
B-catenin
Interferes with SOX9 expression to repress male pathway.
LOF - XX masculinisation.
GOF - XY female developement
FOXL2
3q22. Involved in male pathway repression.
LOF results in blepharophimsis-ptosis-eipcantus inversus syndrome (BPES).
DAX1 (NROB1)
Xp21.
LOF - CAH
GOF - XY sex reversal
SF1
9q33. Involved in male development
TESCO
17q24. Enhancer of SOX9
FGF9
13q12. Maintains SOX9 exp
DMTR1
9p24. Testes development and maintenance of male development postnally
ATRX
Xq21. X linked thalassemia and mental retardation gene.
GATA4
8p23. Involved in congenital heart disease and some cases of XY gonadal dysgenesis.
5 alpha reductase
Converts testosterone to DHT.
TBX1
22q11.2
MYH11
16p13.11 (not reported prenatally)
GJA5
Distal 1q21.1 dup/del syndrome
Report prenatally
CHRNA7
15q13.3 deletion syndrome
Report prenatally
SH2B1
Distal 16p11.2 deletion syndrome
Report prenatally
TBX6
Proximal 16p11.2 deletion syndrome
Report prenatally
HNF1B
17q12 deletion syndrome
Report prenatally
TBX1
22q11.2
MYH11
16p13.11 (not reported prenatally)
GJA5
Distal 1q21.1 dup/del syndrome
Report prenatally
CHRNA7
15q13.3 deletion syndrome
Report prenatally
SH2B1
Distal 16p11.2 deletion syndrome
Report prenatally
TBX6
Proximal 16p11.2 deletion syndrome
Report prenatally
HNF1B
17q12 deletion syndrome
Report prenatally