Patient | Visit Age | Phenotype | Serum Hormone | MAMLD1 Variants | Functional Studies | Origin | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Hypos-padias | Micro-penis | Crytor-chidism | Urethral Meatus | Gonad Function | Adrenal Function | Nucleotide Change | Amino AcidChange | Variant Type | Transactivat- ion on Hes 3 | Protein Expression | |||
11 | 4 mo | + | – | + | Penoscrotal | Normal | NA | c.514G>T | p.E172X | Nonsense | ↓ | ↓ | Japan |
12 | 1 mo | + | – | – | Penoscrotal | Normal | NA | c.514G>T | p.E172X | Nonsense | ↓ | ↓ | Japan |
13 | 2 yr | + | – | – | Penoscrotal | Normal | NA | c.733C>T | p.Q245X | Nonsense | ↓ | ↓ | Japan |
14 | 3 mo | + | – | + | Penoscrotal | Normal | NA | c.2176C>T | p.R726X | Nonsense | ↓ | ↓ | Japan |
15 | 5.5 yr | + | – | – | Proximal | NA | NA | c.1439 T>C | p.V480A | Missense | NA | NA | USA |
16a | 2 yr | + | + | + | Penoscrotal | Normal | Normal | c.1439 T>C | p.V480A | Missense | Normal | NA | Spain |
17 | 1.2 yr | + | – | – | Penoscrotal | Normal | Normal | c.471delG | p.E157X | Deletion | NA | NA | USA |
18 | 1.2 yr | + | – | + | Proximal | Normal | Normal | c.471delG | p.E157X | Deletion | NA | NA | USA |
19 | 1 mo | + | – | – | Subcoronal | NA | NA | c.1735_1736insCAGCAGCAG | p.579_580insQQQ | Insertion | NA | NA | USA |
20 | NA | + | – | + | NA | NA | NA | c.1729C>T | p.Q577K | Missense | NA | NA | Sweden |
21 | NA | + | – | – | NA | NA | NA | c.1075C>T | p.P359S | Missense | Normal | NA | Sweden |
22 | NA | + | – | – | NA | NA | NA | c.1842 + 2257A>G | Missense | Normal | NA | Italian | |
23a | 13 yr | Female genitalia | Perineal | – | NA | c.1842 + 2302C>T | Missense | ↓ | NA | German | |||
24 | 1 mo | + | – | – | Penoscrotal | Normal | Normal | c.1843-6690A>G | splice site | ↓ | ↓ | Japanese | |
25 | Neonate | + | + | – | Scrotal | Normal | NA | c.428C>A | p.S143X | Nonsense | ↓ | NA | Caucasian |
26 | 3 mo | + | + | – | Perineal | Normal | NA | c.1076C>T | p.P359L | Missense | ↓ | NA | Caucasian |
27a | 2 yr | Female genitalia | Perineal | Normal | Normal | c.966C>A | p.H322Q | Missense | Normal | NA | Spain | ||
28 | 2 yr | + | + | + | Penoscrotal | Normal | Normal | c.966C>A | p.H322Q | Missense | Normal | NA | Spain |
29 | NA | + | – | – | Penoscrotal | Normal | NA | c.530C>T | p.T177M | Missense | Normal | NA | Spain |
30a | 15 d | + | + | – | Penoscrotal | Normal | Normal | c.551delT, c.556G>A | p.L185X, p.D186N | Nonsense | ↓ | NA | Spain |
31b | 70 yr | + | + | – | NA | Normal | Normal | c.1430_1431insCAG | p.476_477insQ | Insertion | Normal | NA | Switzerland |
32 | 9 mo | + | + | – | Penoscrotal | Normal | Normal | c.1433C>A | p.A478E | Missense | Normal | NA | Spain |
33 | 15 mo | + | + | – | Penoscrotal | Normal | Normal | c.2170C>G | p.L724V | Missense | Normal | NA | Spain |
34a | 12 mo | + | + | – | Penoscrotal | Normal | NA | c.1843-6539G>A | Missense | Normal | NA | Spain | |
35 | NA | Female genitalia | Perineal | NA | NA | c.1664A>G | p.Q555R | Missense | Normal | NA | Italian | ||
36 | NA | Female genitalia | Perineal | NA | NA | c.1664A>G | p.Q555R | Missense | Normal | NA | Italian |