Whole exome sequencing reveals concomitant mutations of multiple FA genes in individual Fanconi anemia patients

BMC Medical Genomics

Table 2 Validated Fanconi gene mutations

Gene	Site	Mutation	Fa-001			Fa-002			Fa-003			Fa-004			Fa-005
Gene	Site	Mutation	F	M	C	F	M	C	F	M	C	F	M	C	C^#
FANCA	Chr16 88389826-32	-GGGCTGT deletion frameshift											√	√
	Chr16 88385436*	G > A missense A > V					√	※
	Chr16 88389853-4	-GG deletion frameshift	√		√
	Chr16 88385373	-A deletion frameshift		√	√
	Chr16 88343697*	T > C missense S > G					√	√
	Chr16 88343715	G > A missense R > W													√
	Chr16 88367267*	G > C missense P > A													√
	Chr16 88343815*	A > G intron													√
FANCB	ChrX 14781120	C > T missense V > I					√	※
FANCM	Chr14 44714456	A > G missense I- > V								√	√
	Chr14 44735218	C > G missense P > A				√		√
	Chr14 44714339	G > T nonsense N > N				√		√
	Chr14 44676037	C > T missense S > F				√		√
	Chr14 44720650	A > G missense I > V				√		√
	Chr14 44727906	G > A missense R > Q							√		√
FANCD1 (BRCA2)	Chr13 31809499	C > G missense H > D										√		√
	Chr13 31804480*	A > C missense N > H								√	√
	Chr13 31809463*	A > C missense N > D								√	√
	Chr13 31871012	A > C 3’-UTR				√	√	※
FANCD2	Chr3 10117949*	C > T 3’-UTR										√		√
	Chr3 10081532*	C > T missense P > L											√	√
	Chr3 10115671*	G > A 3’-UTR											√	√
FANCI	Chr15 87636941*	A > G missense I > V	√		√

※:homozygous mutation; √: heterozygous mutation; F: father; M: mother; C: child (patient); # Orphan; *SNP.

ISSN: 1755-8794