Table 1 List of the phenotype information for 6 newly reported patients with TMEM260 c.1617del variant

From: The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease

Family

Individual ID

Gender

Age

Race

Consanguinity

Genotype

Cardiac phenotype

Other SHDRA-related phenotypes

OFT

Aorta

Neurological

Renal

Family 1

F1-II-3

F

17 months

Japanese

–

homo

PTA

ARSCA

–

–

 

F1-II-4

M

15 days

Japanese

–

homo

PTA

RAA

–

–

Family 2

F2-II-1

F

6 years

Japanese

–

homo

PTA

RAA

–

–

Family 3

F3-II-1

F

22 years

Japanese

–

homo

PTA

–

–

–

Family 4

F4-II-4

M

2 days

Japanese

–

homo

PTA

RAA

NA

–

Family 5

F5-II-1

M

7 years

Japanese

–

homo

PA-VSD with MAPCAs

RAA

–

–

  1. ARSCA aberrant right subclavian artery, MAPCAs major aortopulmonary collateral arteries, NA not analyzed, OFT outflow tract, PA-VSD pulmonary atresia with ventricle septal defect, PTA persistent truncus arteriosus, RAA right aortic arch, - none
Back to article page