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Table 1 Summary of LCSH, associated clinical findings, and imprinted genes

From: Long contiguous stretches of homozygosity spanning shortly the imprinted loci are associated with intellectual disability, autism and/or epilepsy

Case # Chromosomal region Age Clinical features Size, kb Genes (imprinted)
1 7q21.3 5 years Developmental delay, autistic behavior, hyperactivity 1098 SGCE, PEG10 PPP1R9A
2 7q21.3 11 years Intellectual disability, developmental delay 1062 SGCE, PEG10, PPP1R9A, TFPI2
3 7q31.33q32.3 2 years Intellectual disability, developmental delay, microcephaly, seizures, facial dysmorphisms, muscular hypotonia 4257 KLF14, MEST, COPG2, MESTIT1, CPA4
4 7q32.1q32.2 2 years 7 months Intellectual disability, developmental delay, microcephaly, seizures, facial dysmorphisms 1089 CPA4
5 7q32.2 3 years Intellectual disability, developmental delay, facial dysmorphisms 1033 CPA4, MESTIT1, MEST, COPG2
6 7q32.2 15 years Intellectual disability, developmental delay, congenital heart defect 1020 KLF14, MEST, COPG2, MESTIT1, CPA4
7 11р15.5р15.4 5 years Intellectual disability, autistic behavior, microcephaly, seizures, facial dysmorphisms, somatic overgrowth 1360 CDKN1C, KCNQ1DN, KCNQ1, SLC22A18AS, SLC22A18, PHLDA2, NAP1L4, OSBPL5,
8 11р15.5р15.4 10 years Developmental delay, autistic behavior, facial dysmorphisms, somatic overgrowth 1147 IGF2, H19, CDKN1C, KCNQ1DN, KCNQ1, SLC22A18, PHLDA2, NAP1L4, OSBPL5, IGF2AS, INS, TH, ASCL2, TSPAN32, CD81, TSSC4, TRPM5, KCNQ1OT1, SLC22A18AS
9 11p15.5p15.4 4 years Intellectual disability, developmental delay, macrocephaly, feeding difficulty, umbilical hernia, hepatomegaly, undescended testis, facial dysmorphisms, short neck 1554 CDKN1C, KCNQ1, KCNQ1OT1, ASCL, TSPAN32, CD81, TSSC4, TRPM5, SLC22A18AS, SLC22A18, PHLDA2 NAP1L4, OSBPL5
10 15q11.2 2 years 10 months Intellectual disability, developmental delay, feeding difficulty, facial dysmorphisms 1068 NPAP1, SNRPN
11 15q11.2 4 years Intellectual disability, developmental delay, hyperactivity, facial dysmorphisms, seizures 1158 SNRPN, PAR1, IPW, PAR5,
12 15q11.2 5 years Developmental delay, autistic behavior, seizures, facial dysmorphisms 1002 NPAP1, SNRPN
13 15q11.2 5 years Developmental delay, autistic behavior, fetal cerebral ventriculomegaly, facial dysmorphisms 1067 NPAP1
14 15q11.2 18 years Intellectual disability, personality disorder 1224 NPAP1, SNRPN, SNURF, SNORD107, SNORD108, SNORD109B, SNORD109A UBE3A