De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype

BMC Medical Genetics

Table 1 Clinical manifestation comparison in patients reported with truncating variants in NSD2

	WHSC1 variant	Facial Features												Prenatal onset growth deficiency	Developmental delay/intellectual disability	Seizure disorder	Feeding difficulties	Hypotonia and muscle underdevelopment	Birthweight
	WHSC1 variant	“Greek warrior helmet” appearance of the nose	Microcephaly	High anterior hairline with prominent glabella	Craniofacial asymmetry	Abnormal teething	Widely spaced eyes	Epicanthus	Highly arched eyebrows	Short philtrum	Downturned corners of the mouth	Micrognathia	Poorly formed ears with pits/tags	Prenatal onset growth deficiency	Developmental delay/intellectual disability	Seizure disorder	Feeding difficulties	Hypotonia and muscle underdevelopment	Birthweight
Patient 1^a	c.2518 + 1G > A	Yes	Yes	No	Yes (mild)	Yes	Yes (mild)	No	Yes (mild)	Yes	Yes	Yes	Yes	Yes	Yes	No	Yes	Yes	1.5 kg[<P3]
Patient 2^a	c.2803C > T p.Arg935*	Yes (mild)	Yes	No	Yes	Yes	No	No	No	Yes	Yes	Yes (mild)	Yes	Yes	Yes	No	Yes	Yes	2.3 kg[P3]
Patient 3^b	c.3412C > T p.Arg1138*	No	Yes	Yes	No	Yes	Yes	Yes	No	No	No	No	Yes	No	Yes	No	No	Yes	3.05 kg[P20]
Patient 4^c	c.1676_1679del p.Arg559Thrfs*38	No	No	No	No	No	Yes	Yes	Yes	No	No	Yes (mild)	Yes	No	Yes	No	Yes	Yes (mild)	2.58 kg[P6]
Our case	c.4029_4030insAA p.Glu1344Lysfs*49	Yes	No	Yes	No	Yes	Yes	Yes	Yes (mild)	Yes	Yes	Yes	No	Yes	Yes	No	Yes	Yes	2.2 kg[P2]

ISSN: 1471-2350