Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability

Table 5 Repeats in L020 family confirmed potential phenotypical relevance for XLID25 allele upon a control screening

`	Start	End	Name code	Unit length	Copies	Purity	Unit seq.	Annotation	L020 (=5X) family									Control unaffected males
`	Start	End	Name code	Unit length	Copies	Purity	Unit seq.	Annotation	5X4		5X7		5X15	5X19	5X17	5X18	Pro-band	Co4	Co5	Co7	Co8	LG	GW	LR	MA	VF	RL	DPS	GR	VR	PB
chrX	44,007,461	44,007,502	XLID2	2	21	90.5	GT	ThreePrimeUTR	354	364	354	364	364	364	354	354	354	354	354	358	364	354	368	362	354	354	354	354	364	354	356
chrX	45,046,714	45,046,751	XLID20	2	19	100	CA	oregannoTFBS	230	234	230	234	230	230	234	234	234	238	232	228	228	236	230	236	234	230	230	232	230	234	226
chrX	45,386,687	45,386,738	XLID22	2	26	100	CA	Downstream	122	134	122	134	122	122	134	134	134	138	132	130	134	134	132	122
chrX	45,606,270	45,606,355	XLID25	2	43	79.1	GT	Downstream	372	376	372	376	372	372	376	376	376	354	366	372	366	372	366	364	372	374	366	372	372	372	366
chrX	45,709,592	45,709,631	XLID27	2	20	100	GT	NonCoding	415	421	415	421	421	421	415	415	415	415	415	419	424	415	415	423

Proband, 5X17, 5X18 – affected family members, 5X15, 5X19 – unaffected males, 5X4, 5X7 – carriers of the disease-related haplotype. Allele size is given in base pairs. Alleles found in the individual with ID are in bold: 354, 234, 134, 376 and 415 for the tandem repeats XLID2, XLID20, XLID22, XLID25 and XLID27 respectively

ISSN: 1755-8794