Table 3.

Confirmed pathogenic mutations found by whole-exome sequencing

Patient No.	Phenotype	LCSH	Mutated gene	Affected transcript	Protein change	Disease	First report of the mutation
Patients in whom a pathogenic mutation was confirmed inside an LCSH
1	transfusion-dependent, non-immune hemolytic anemia	arr[hg19] 1q21.2q23.2(149,698,049 – 159,667,190)×2 hmz	PKLR	NM_000298.5: c.1137_1139del	NM_000298.5: p.(Lys380del)	pyruvate kinase deficiency of red cells (OMIM 266200)	this report
2	developmental delay, ataxia, cerebellar atrophy	arr[hg19] 5q31.1q31.2(132,669,425 – 139,522,328)×2 hmz	SIL1	NM_022464.4: c.947dupT	NM_022464.4: p.(Arg317Glufs*35)	Marinesco-Sjögren syndrome (OMIM 248800)	Senderek et al., 2005
Patients in whom a pathogenic mutation was confirmed outside an LCSH
3	intellectual disability, macrocephaly	arr[hg19] 1q25.3q32.1(182,559,510 – 200,136,582)×2 hmz, 14q13.3q21.2(37,290,124 – 44,790,527)×2 hmz	–
		in smaller LCSH: arr[hg19] 19q13.32q13.33(47,035,436 – 48,534,068)×2 hmz	KPTN	NM_007059.2: c.665dupA	NM_007059.2: p.(Ser223Glnfs* 18)	mental retardation, autosomal recessive 41 (OMIM 615637)	Pajusalu et al., 2015
4	oligohydramnios, congenital renal insufficiency, hypotension, calvarial hypoplasia	arr[hg19] Xp22.1p21.2(23,811,075 – 29,602,016)×2 hmz	–
		outside LCSH in 1p32.1	REN	NM_000537.3: c.[341C>T];[255G>C]	NM_000537.3: p.[(Ser114Phe)]; [(Gln85His)]	renal tubular dysgenesis (OMIM 267430)	this report