Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP

Table 2 Haplotype including homozygous exome variants from TTDN families ED168 and ED241

hg19 Position	Reference Allele	Alternate Allele	ExAC South Asian MAF	Gene	Variant	Type	#Heterozygous^a	#Homozygous^a
39606107	G	A	0.10	YAE1D1	c.90G > A	synonymous	41	3
39608877	T	C	0	YAE1D1	c.130 -1228 T > C	intronic	0	0
39609087	C	G	0	YAE1D1	c.130 -1018C > G	intronic	0	0
39609442	A	T	0	YAE1D1	c.130 -663A > T	intronic	0	0
39610177	A	G	0.10	YAE1D1	c.202A > G^b	missense	41	3
39610241	C	G	0.11	YAE1D1	c.251 + 15C > G	intronic	13	0
39611748	A	G	0	YAE1D1	c.252 -128A > G	intronic	0	0
39611819	G	A	0	YAE1D1	c.252 -57G > A	intronic	0	0
39856354	T	C	0	NA	NA	intergenic	1	0
39874259	G	A	0	NA	NA	intergenic	28	11
39874281	T	C	0	NA	NA	intergenic	28	11
40087752	A	G	0	CDK13	c.2600 + 276A > G	intronic	0	3^c
40117364	A	G	0	CDK13	c.2781 -240A > G	intronic	1	0
40173827	C	T	0	MPLKIP	c.339 + 1G > A	splice	0	0
40191226	C	G	0	C7orf10	c.121 + 16507C > G	intronic	1	0

^aBased on 218 in-house exomes from unrelated Pakistani individuals with non-TTDN phenotypes
^bThis YAE1D1 p.(Lys68Glu) variant is predicted to be benign by 9 out of 9 bioinformatics prediction tools from dbNSFP
^cThe 3 exomes that are homozygous for this variant are from individuals with nonsyndromic hearing impairment
NA, not applicable

ISSN: 1471-2350