Table 3. Open in new tab Human and Mice...

	Human Phenotype	Mouse Phenotype	Comparison (DLK1 Mutated vs Idiopathic CPP^a)
Origin of study	Japan/United Kingdom	Brazil/United Kingdom	Brazil	United States
Number of women	32/51	10	20	—
Median age (range), y	Children and adults	23 (16–63)	16.7 (15–27)
Genetic basis	UPD(14)mat, epimutation, microdeletion	DLK1 deletion and frameshifts	Unknown	Generation of DLK1-null mice
Short stature, %	79–94	30	0	Pre-postnatal growth retardation	Not applicable
Eye and bone alterations, %	—	10 (syndactyly)	—	Blepharophimosis and rib alterations	—
Overweight/obesity, %	11–49	60	35	+	<0.001
Hyperlipidemia, %	10–23	50	0	+	Not applicable
Insulin resistance %  (HOMA-IR >2.7)	+	70	15	+	<0.001
Type 2 diabetes mellitus %	11–20	30	0	+	Not applicable
CPP, %	76–86	100	100	—
Menarche, y		Untreated: 7·8^b	12
		Treated: 11·6^b
PCOS/infertility, %	Not applicable	20	10	—	0.047
References	Kagami et al. (16)Ioannides et al. (15)	Dauber et al. (18) Current study	Current study	Moon et al. (19)Sul (25)	Current study

Human Phenotype

Mouse Phenotype

Comparison (DLK1 Mutated vs Idiopathic CPP^a)

Temple Syndrome

Monogenic CPP Due to DLK1 Defects

Idiopathic CPP

Dlk1 KO

P^a

Origin of study

Japan/United Kingdom

Brazil/United Kingdom

Brazil

United States

Number of women

32/51

—

Median age (range), y

Children and adults

23 (16–63)

16.7 (15–27)

Genetic basis

UPD(14)mat, epimutation, microdeletion

DLK1 deletion and frameshifts

Unknown

Generation of DLK1-null mice

Short stature, %

79–94

Pre-postnatal growth retardation

Not applicable

Eye and bone alterations, %

—

10 (syndactyly)

—

Blepharophimosis and rib alterations

—

Overweight/obesity, %

11–49

<0.001

Hyperlipidemia, %

10–23

Not applicable

Insulin resistance %  (HOMA-IR >2.7)

<0.001

Type 2 diabetes mellitus %

11–20

Not applicable

CPP, %

76–86

100

—

Menarche, y

Untreated: 7·8^b

Treated: 11·6^b

PCOS/infertility, %

Not applicable

—

0.047

References

Kagami et al. (16)Ioannides et al. (15)

Dauber et al. (18) Current study

Current study

Moon et al. (19)Sul (25)

Current study

	Human Phenotype	Mouse Phenotype	Comparison (DLK1 Mutated vs Idiopathic CPP^a)
Origin of study	Japan/United Kingdom	Brazil/United Kingdom	Brazil	United States
Number of women	32/51	10	20	—
Median age (range), y	Children and adults	23 (16–63)	16.7 (15–27)
Genetic basis	UPD(14)mat, epimutation, microdeletion	DLK1 deletion and frameshifts	Unknown	Generation of DLK1-null mice
Short stature, %	79–94	30	0	Pre-postnatal growth retardation	Not applicable
Eye and bone alterations, %	—	10 (syndactyly)	—	Blepharophimosis and rib alterations	—
Overweight/obesity, %	11–49	60	35	+	<0.001
Hyperlipidemia, %	10–23	50	0	+	Not applicable
Insulin resistance %  (HOMA-IR >2.7)	+	70	15	+	<0.001
Type 2 diabetes mellitus %	11–20	30	0	+	Not applicable
CPP, %	76–86	100	100	—
Menarche, y		Untreated: 7·8^b	12
		Treated: 11·6^b
PCOS/infertility, %	Not applicable	20	10	—	0.047
References	Kagami et al. (16)Ioannides et al. (15)	Dauber et al. (18) Current study	Current study	Moon et al. (19)Sul (25)	Current study

Table 3.

Open in new tab

Human and Mice Phenotypes Due to DLK1 Deficiency

	Human Phenotype			Mouse Phenotype	Comparison (DLK1 Mutated vs Idiopathic CPP^a)
	Temple Syndrome	Monogenic CPP Due to DLK1 Defects	Idiopathic CPP	Dlk1 KO	P^a
Origin of study	Japan/United Kingdom	Brazil/United Kingdom	Brazil	United States
Number of women	32/51	10	20	—
Median age (range), y	Children and adults	23 (16–63)	16.7 (15–27)
Genetic basis	UPD(14)mat, epimutation, microdeletion	DLK1 deletion and frameshifts	Unknown	Generation of DLK1-null mice
Short stature, %	79–94	30	0	Pre-postnatal growth retardation	Not applicable
Eye and bone alterations, %	—	10 (syndactyly)	—	Blepharophimosis and rib alterations	—
Overweight/obesity, %	11–49	60	35	+	<0.001
Hyperlipidemia, %	10–23	50	0	+	Not applicable
Insulin resistance %  (HOMA-IR >2.7)	+	70	15	+	<0.001
Type 2 diabetes mellitus %	11–20	30	0	+	Not applicable
CPP, %	76–86	100	100	—
Menarche, y		Untreated: 7·8^b	12
		Treated: 11·6^b
PCOS/infertility, %	Not applicable	20	10	—	0.047
References	Kagami et al. (16)Ioannides et al. (15)	Dauber et al. (18) Current study	Current study	Moon et al. (19)Sul (25)	Current study

	Human Phenotype			Mouse Phenotype	Comparison (DLK1 Mutated vs Idiopathic CPP^a)
	Temple Syndrome	Monogenic CPP Due to DLK1 Defects	Idiopathic CPP	Dlk1 KO	P^a
Origin of study	Japan/United Kingdom	Brazil/United Kingdom	Brazil	United States
Number of women	32/51	10	20	—
Median age (range), y	Children and adults	23 (16–63)	16.7 (15–27)
Genetic basis	UPD(14)mat, epimutation, microdeletion	DLK1 deletion and frameshifts	Unknown	Generation of DLK1-null mice
Short stature, %	79–94	30	0	Pre-postnatal growth retardation	Not applicable
Eye and bone alterations, %	—	10 (syndactyly)	—	Blepharophimosis and rib alterations	—
Overweight/obesity, %	11–49	60	35	+	<0.001
Hyperlipidemia, %	10–23	50	0	+	Not applicable
Insulin resistance %  (HOMA-IR >2.7)	+	70	15	+	<0.001
Type 2 diabetes mellitus %	11–20	30	0	+	Not applicable
CPP, %	76–86	100	100	—
Menarche, y		Untreated: 7·8^b	12
		Treated: 11·6^b
PCOS/infertility, %	Not applicable	20	10	—	0.047
References	Kagami et al. (16)Ioannides et al. (15)	Dauber et al. (18) Current study	Current study	Moon et al. (19)Sul (25)	Current study

Metabolic features were compared between women with DLK1 mutations and idiopathic CPP.

Abbreviations: +, present; −, absent; HOMA-IR, homeostatic model assessment of insulin resistance; KO, knockout; UPD, maternal uniparental disomy of chromosome 14.

DLK1-mutated vs idiopathic CPP (χ² test).

Age (y) of the menarche in treated and untreated affected women.

This Feature Is Available To Subscribers Only