Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing

Gal, Moran; Khermesh, Khen; Barak, Michal; Lin, Min; Lahat, Hadas; Reznik Wolf, Haike; Lin, Michael; Pras, Elon; Levanon, Erez Y.

doi:10.1186/s12920-016-0184-7

Table 1 Summary of all mutations identified in the experiment

From: Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing

“Knowns”
Sample	Gene	Mutation	Detected
S3	HEXA	c.1278insTATC	√
S6	CFTR	p.F508 del	√
S7	DYSF	c.1624delG	√
S8	FANCA	c.2172-2173 + G	√
S9	GBA	p.84dupG	√
S10	GJB2	c.167DelT	√
S10	CFTR	p.N1303K	√
S11	GJB2	c.35delG	√
S11	PAH	A403V	√
S11	ATM	p.103C > T	√
S12	GJB2	51_62del12ins1	√
S13	HEXA	c.1278insTATC	√
S13	SMARCAL1	IVS4 -2 A > G	√
S14	HEXA	p.F304/305del	√
S15	SPMD1	p.R610del	√
S15	PEX6	p.A809V	√
S16	BCKDHB	p.R183P	√
S17	CERKL	IVS1 + 1G > A	√
S18	CFTR	c.405 + 1G > A	√
S19	CFTR	p.G542X	√
S20	CFTR	p.G85E	√
S21	CFTR	p.W1282X	√
S22	FANCC	IVS4 + 4A > T	√
S23	G6PC	p.R83C	√
S24	GBA	c.115 + 1G > A	x^a
S25	GBA	p.N370S	√
S25	GBA	p.V394L	√
S25	PEX6	p.A809V	√
S26	GBA	p.R496H	x
S28	CFTR	p.Q359K + p.T360K	√
S30	IKBKAP	c.2204 + 6 T > C	√
S31	HEXA	p.G269S	√
S32	TMEM216	p.R73L	√
S33	HEXA	IVS12 + 1G > C	√
S34	HEXA	p.R170Q	√
S35	SPMD1	p.L302P	√
S38	SPMD1	p.R496L	√
S39	HEXA	p.G250V	√
S40	ATM	p.103C > T	√
S41	CFTR	p.N1303K	√
S42	GJB2	c.167DelT	√
S42	CFTR	p.N1303K	√
S43	HEXA	c.1278insTATC	√
S44	DYSF	c.1624delG	√
S45	GJB2	51_62del12ins1	√
S46	CFTR	p.N1303K	√
S47	GJB2	c.35delG	√
S47	PAH	p.A403V	√
S47	ATM	p.103C > T	√
S48	CFTR	p.Y1092X	√
Large Rearrangements
S1	GALT	Del 5Kb	√^b
S4	PAH	Del 6.7Kb	√^b
S3	MAK	Ins353bp	√^b
S29	MAK	Ins353bp	√^b
S32	MAK	Ins353bp	√^b
“Unknowns”
Sample	Gene	Mutation	validated
S3	CLRN1	p.N48K	√
S3	ASPA	p.E285A	√
S7	AMN	c.208-2A > G	√
S17	SAMD9	p.R344X	√
S18	GUCY2D	c.389delC	NA
S18	SERPINA1	p.E342K	√
S18	SERPINA1	p.E264V	√
S22	GJB2	p.V37I	√
S31	ABCC8	c.3989-9G > A	√
S31	PEX6	p.A809V	√
S33	SPMD1	p.R496L	√
S39	FANCC	IVS4 + 4A > T	√
S40	CFTR	p.L997F	NA
S40	FAM161A	c.1355_6delCA	√
S44	EYS	p. Thr135LeuX25	√
Variants with high incident
Gene	mutation	samples
TRMU	p.A10S	S10,S11,S16,S33,S38,S42,S44,S47
ACADS	p.G185S	S2,S4^c,S8,S12^c,S13,S51,S18^c,S19,S21,S22,S23^c,S24,S26,S28,S33,S35,S36^c,S39,S41,S44,S45^c,S46,S48
MYOC	p.R76K	S11,S12,S13,S16,S18,S24,S28,S29,S31,S45,S47
LIPA	p.G5R	S2,S5^c,S6^c,S29,S37,S44,S48

^aIdeantified manually with 26 % mutant allele
^bdetected by finding exact match of chimeras sequences (explained in the Methods)
^cfound as homozygous

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ISSN: 1755-8794

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