The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D

Table 1

Variants identified by WES in combination with AMC-related gene-filtering in the present patient.

Gene	Variant	Mutation taster	PolyPhen-2	SIFT	1000G	ExAC	gnomAD	OMIM clinical phenotype	American College of Medical Genetics classification
NEB	NM_001164508: c.19295A>G, p.Q6432R	D (0.872)	D (0.985)	T (0.103)	0.0016	0.0005	0.0004	AR; nemaline myopathy 2	PP3, BP5
ECEL1	NM_004826: c.1810G>A, p.G604R	D (1.000)	D (1.000)	D (0.000)	—	0.0000	0.0001	AR; arthrogryposis, distal, type 5D	PM2, PP3, PP4
ECEL1	NM_004826: c.69C>A, p.C23	D (1.000)	—	—	—	—	—		PVS1, PM2, PP3, PP4
CD96	NM_198196: c.901A>G, p.I301V	P (1.000)	B (0.089)	D (0.026)	—	0.0001	0.0000	AD; C syndrome	PM2, BS4, BP4, BP5
SCARF2	NM_182895: c.1796C>T, p.A599V	P (0.990)	D (0.351)	D (0.024)	—	—	—	AR; Van den Ende-Gupta syndrome	PM2, PP3, BP5
FGD1	NM_004463: c.1340+9C>T	D (1.000)	—	—	0.0032	0.0008	0.0005	XLR; Aarskog-Scott syndrome/XLR; mental retardation, X-linked syndromic 16	BP4, BP5

D: disease causing; T: tolerated; P: polymorphism; B: benign; AR: autosomal recessive; AD: autosomal dominant; XLR: X-linked recessive. Pathogenic: PVS1> PS1> …> PS4> PM1-6> PP1-5; benign: BA1> BS1-4> BP1-7. PVS: pathogenic very strong; PS: pathogenic strong; PM: pathogenic moderate; PP: pathogenic supporting; BA: benign stand alone; BS: benign strong; BP: benign supporting.