Table 2.

Characteristics of White-Sutton cases with congenital heart disease

Individual	Individual 10 Murch et al. (2022) [25]	L01 Nagy,Dóra et al. (2022) [24]	Patient 2 White et al. (2016) [17]	Patient 1 Dentici et al. (2017) [14]	Patient Pascolini et al. (2020) [36]	Patient Trimarchi et al. (2021) [31]	Patient 8 Garde et al. (2021) [27]	Patient Dal et al. (2021) [29]
Gender	male	male	Female	Female	Male	Female	Male	Male
Age at onset	Birth	NA	NA	Birth	NA	Birth	NA	NA
Mutation	c2933_2934dupTT p.Arg979Phefs*3	c.2873_2874delCA; p.Ala958Valfs*6	c.2763dupC p.Thr922Hisfs*22	c.2820dupG p.Asn941Glufs*3	c.3631 C > T p.Arg1211*	c,2546-1G > A	c.2545 + 1delG	c.3631 C > T p.Arg1211*
Genetic testing	Trio-WES, karyotype, array	NA	diagnostic WES	WES, chromosomal microarray	Family-based WES	Trio-WES, array-CGH	NA	Exome sequencing
Inheritance	De novo	De novo	De novo	De novo	De novo	De novo	De novo	De novo
Cardiovascular defect	Atrial septal defect	Atrial septal defect	Atrial septal defect, Patent ductus arteriosus, patent foramen ovale	Atrial septal defect	Aortic bicuspid valve with mild ascending aorta dilatation	Congenital heart disease	Atrial septal defect	Dextrocardia
Developmental Delay	YES	YES	YES	YES	YES	YES	YES	YES
Seizure	NO	YES	NO	YES	NO	NO	NO	NA
ASD	NA	NA	NO	YES	YES	NA	NA	NA
Microcephaly	YES	YES	YES	YES	NO	YES	NA	NA
Gastrointestinal issues	YES	YES	YES	YES	Yes	YES	NA	NA
Hearing impairment	Yes	NO	Yes	Yes	Yes	YES	Yes	NA
Abnormal brain imaging	NA	NA	YES	YES	YES	YES	YES	NA
Other	Prominent right eye with strabismus, cystic hygroma, pyloric stenosis, bilateral cryptorchidism	Pendle nystagmus and choroidal atrophy	Congenital diaphragmatic hernia; duplicated renal collecting system, cortical blindness	Vitiligo	Overweight	Dystonia	Common mesentary, micropenis, cryptorchidism, vision impairment	Overweight