Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling

BMC Medical Genetics

Table 1 The mutations list after data filtering and co-segregation analysis

CHR	POS	RB	AB	Gene	Mutation	SIFT	PolyPhen-2	MutationTaster	PANTHER	OMIM clinical phenotype	ToppGene function	ACMG classification
1	45,481,060	C	T	UROD	NM_000374: c.994C > T, p.R332C	0,D	0.94,D	0.99,D	–	AD or AR: Porphyria cutanea tarda	heme biosynthetic process	BP5
2	149,216,410	G	A	MBD5	NM_018328: c.83G > A, p.R28H	0,D	0.99,D	0.99,D	P	AD: Mental retardation	response to growth hormone	BP5
2	189,953,479	G	T	COL5A2	NM_000393: c.587G > T, p.A196D	0.29,T	0.98,D	0.99,D	–	AD: Ehlers-Danlos syndrome	regulation of endodermal cell differentiation	BP4, BP5
3	38,674,642	G	A	SCN5A	NM_198056: 157G > A, p.R53W	0,D	0.36,B	0.95,D	P	AD: Atrial fibrillation	voltage-gated sodium channel activity	BP4, BP5
3	184,953,112	G	A	EHHADH	NM_001966: c.317G > A, p.A106V	0,D	0.99,D	0.99,D	P	AD: Fanconi renotubular syndrome	peroxisomal transport	BP5
17	48,701,856	G	A	CACNA1G	NM_018896: c.6365G > A, p.R2122H	0.04,D	0.01,B	0.8,D	P	AD: Spinocerebellar ataxia	voltage-gated calcium channel	BP4, BP5
17	54,672,274	C	G	NOG	NM_005450: c.690C > G, p.C230W	0,D	0.99,D	0.99,D	D	AD: Symphalangism proximal	fibroblast growth factor receptor signaling pathway	PM1, PM2

CHR Chromosome, POS position, RB reference sequence base, AB alternative base identified, D damaging, P probably damaging, B Benign, T Tolerated, AR autosomal recessive, AD autosomal dominant, BP Benign Supporting, PM Pathogenicity Moderate

ISSN: 1471-2350