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Table 2 Genetic variants, time of appearance of vascular abnormalities and original diagnostic suspect in the 16 patients identified with early diagnosis of Loeys Dietz syndrome

From: Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature

Report

Variant

Appearance of vascular abnormalities

Original diagnostic suspect

Choo JTL et al

1583G > A(R528H), exon 7, TGFBR2

2 months

Arthrogryposis

Ilyn VN et al

/

Prenatal ultrasound

/

Muramatsu Y et al

c.1370 T > A(M457L), exon 5, TGFBR2

1 month

/

Kuppler KM et al

1583G > A (R528H), exon 7, TGFBR2

3 months

/

Wisniewski K et al

/

1 month

/

Valenzuela I et al

c.1381 T > C, TGFBR2

1 month

Arthrogryposis

Ozawa H et al.; Kawazu Y et al

598A > C, TGFBR1

Prenatal ultrasound (36 weeks)

/

Viassolo V et al

TGFBR2

Prenatal ultrasound (19 weeks)

/

Yetman AT et al. [1]

1583G > A, exon 7, TGFBR2

1 month

Beals syndrome, Larsen syndrome, arthrogryposis

Yetman AT et al. [2]

1570G > A, exon 7, TGFBR2

1 month

Larsen syndrome

Yetman AT et al. [3]

1318G > A, exon 5, TGFBR2

9 years

Larsen syndrome

Yetman AT et al. [4]

865-873delACAGAGAAG, exon 4, TGFBR2

1 month

Arthrogryposis, Larsen syndrome

Yetman AT et al. [5]

IVS5-1G > A (splicing variant), TGFBR2

6 months

Beals syndrome

Chung BHY et al

1583G > A(R528H), exon 7, TGFBR2

1 month

/

Patient 1

c.1378C > G, p (Arg460Gly), exon 5, TGFBR2

1 month

Loeys Dietz

Patient 2

c899G > A, p (Arg300Gin), TGFB3

/

/