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Table 2 Clinical, biochemical and genetic features of the reported 46, XY DSD patients with MAMLD1 variants

From: Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature

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

  1. a reared as females; b Delayed puberty, have fathered a child; NA, Data non-available; +, Positive Phenotype; , Negative Phenotype; ↓, Reduced