PMID: 31397093

Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular genetics & genomic medicine
MC Barboza-Cerda, O Barboza-Quintana, G Martínez-Aldape, R Garza-Guajardo, MA Déctor
2019-09

120 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-22142474-T-G LDLRAD2 c.550T>G p.Cys184Gly Missense 3/5 -
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
11-68125147-C-T LRP5 c.518C>T p.Thr173Met Missense 3/23 -
9-107562804-T-C ABCA1 c.4760A>G p.Lys1587Arg Missense 35/50 -
1-25889632-T-C LDLRAP1 c.604T>C p.Ser202Pro Missense 6/9 -
6-16145325-A-G MYLIP c.1025A>G p.Asn342Ser Missense 6/7 -
1-22142474-T-C LDLRAD2 c.550T>C p.Cys184Arg Missense 3/5 -
17-4722876-G-A PLD2 c.2461G>A p.Gly821Ser Missense 23/25 -
1-55505668-C-G PCSK9 c.158C>G p.Ala53Gly Missense 1/12 -
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -
9-102591042-A-G NR4A3 c.718A>G p.Ser240Gly Missense 3/8 -
10-69281701-A-T CTNNA3 c.478T>A p.Ser160Thr Missense 5/18 -
2-21250914-G-A APOB c.1853C>T p.Ala618Val Missense 14/29 -
19-50881829-CA-CACA NR1H2 c.232_233dup p.Gln78Hisfs*46 Frameshift 5/9 -
17-4722876-G-C PLD2 c.2461G>C p.Gly821Arg Missense 23/25 -
2-21225485-C-G APOB c.12809G>C p.Arg4270Thr Missense 29/29 -
19-50881822-ACA-ACAACA NR1H2 c.225_227dup p.Gln78dupGln InFrameInsertion 5/9 -
11-46893108-T-C LRP4 c.4660A>G p.Ser1554Gly Missense 31/38 -
11-46893108-T-A LRP4 c.4660A>T p.Ser1554Cys Missense 31/38 -
12-57522754-A-C LRP1 c.7A>C p.Thr3Pro Missense 1/89 -
14-77987958-C-A SPTLC2 c.1304-34G>T - IntronicSNV - 9/11
2-141751676-T-C LRP1B c.2532A>G p.Ile844Met Missense 16/91 -
15-58838010-A-C LIPC c.644A>C p.Asn215Thr Missense 5/9 -
15-58838010-A-G LIPC c.644A>G p.Asn215Ser Missense 5/9 -
18-21124945-C-A NPC1 c.1926G>T p.Met642Ile Missense 12/25 -
11-68201295-C-T LRP5 c.3989C>T p.Ala1330Val Missense 18/23 -
12-57598475-G-A LRP1 c.11137G>A p.Gly3713Arg Missense 72/89 -
2-21225753-C-T APOB c.12541G>A p.Glu4181Lys Missense 29/29 -
9-140322520-T-G NOXA1 c.296T>G p.Leu99Arg Missense 3/14 -
2-44040401-G-C ABCG5 c.1810C>G p.Gln604Glu Missense 13/13 -
9-107620867-C-T ABCA1 c.656G>A p.Arg219Lys Missense 7/50 -
9-140327663-C-T NOXA1 c.857C>T p.Pro286Leu Missense 10/14 -
X-48382383-T-A EBP c.224T>A p.Ile75Asn Missense 2/5 -
17-17425631-C-A PEMT c.172G>T p.Val58Phe Missense 3/7 -
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
19-50881649-A-G NR1H2 c.182-130A>G - IntronicSNV - 4/8
17-4720469-C-T PLD2 c.1730C>T p.Thr577Ile Missense 17/25 -
19-50882022-A-C NR1H2 c.425A>C p.Lys142Thr Missense 5/9 -
7-44579179-C-A NPC1L1 c.817G>T p.Asp273Tyr Missense 2/20 -
1-55505552-A-AATGCTG PCSK9 c.42_43insATGCTG p.Pro14_leu15insMetleu InFrameInsertion 1/12 -
2-141116447-G-T LRP1B c.11200C>A p.Gln3734Lys Missense 73/91 -
9-107589255-C-T ABCA1 c.2311G>A p.Val771Met Missense 16/50 -
11-116662407-G-C APOA5 c.56C>G p.Ser19Trp Missense 3/4 -
19-33698291-T-C LRP3 c.2123T>C p.Val708Ala Missense 7/7 -
2-170003432-T-G LRP2 c.12628A>C p.Ile4210Leu Missense 69/79 -
15-58853079-C-T LIPC c.1068C>T p.Phe356Phe Synonymous 7/9 -
19-50881830-A-AACA NR1H2 c.233_234insACA p.Gln78dupGln InFrameInsertion 5/9 -
11-121495816-A-T SORL1 c.6194A>T p.Asp2065Val Missense 46/48 -
18-21136274-T-G NPC1 c.1259A>C p.Tyr420Ser Missense 8/25 -
16-57016092-G-A CETP c.1264G>A p.Val422Ile Missense 14/16 -
16-57016092-G-C CETP c.1264G>C p.Val422Leu Missense 14/16 -
4-100516022-C-G MTTP c.891C>G p.His297Gln Missense 8/19 -
19-45409167-C-G APOE c.-24+69C>G - intron_variant - 1/3
2-21231524-G-A APOB c.8216C>T p.Pro2739Leu Missense 26/29 -
9-140323731-CGG-TGT NOXA1 c.508_510delCGGinsTGT p.Arg170Cys Missense 5/14 -
15-58853079-C-A LIPC c.1068C>A p.Phe356Leu Missense 7/9 -
17-4713060-G-A PLD2 c.689G>A p.Cys230Tyr Missense 8/25 -
2-170053505-C-G LRP2 c.8614G>C p.Ala2872Pro Missense 46/79 -
2-170053505-C-T LRP2 c.8614G>A p.Ala2872Thr Missense 46/79 -
2-170053505-C-A LRP2 c.8614G>T p.Ala2872Ser Missense 46/79 -
1-53712727-C-T LRP8 c.2855G>A p.Arg952Gln Missense 19/19 -
19-45409167-C-T APOE c.-24+69C>T - intron_variant - 1/3
11-46890165-C-A LRP4 c.4937G>T p.Arg1646Leu Missense 33/38 -
2-141093253-G-A LRP1B c.12047C>T p.Pro4016Leu Missense 78/91 -
7-44579029-T-C NPC1L1 c.967A>G p.Thr323Ala Missense 2/20 -
2-170010985-T-A LRP2 c.12280A>T p.Lys4094* Nonsense 66/79 -
9-107645351-TCT-TGT ABCA1 c.388_390delAGAinsTGT p.Arg130Cys Missense 5/50 -
7-44579029-T-A NPC1L1 c.967A>T p.Thr323Ser Missense 2/20 -
7-44579029-T-G NPC1L1 c.967A>C p.Thr323Pro Missense 2/20 -
19-11222300-G-A LDLR c.1171G>A p.Ala391Thr Missense 8/18 -
11-121393684-G-T SORL1 c.1582G>T p.Ala528Ser Missense 11/48 -
11-121393684-G-A SORL1 c.1582G>A p.Ala528Thr Missense 11/48 -
13-32371361-A-T RXFP2 c.1810A>T p.Ile604Phe Missense 17/18 -
13-32371361-A-G RXFP2 c.1810A>G p.Ile604Val Missense 17/18 -
1-161011931-T-G USF1 c.251A>C p.Tyr84Ser Missense 5/11 -
19-50881649-A-C NR1H2 c.182-130A>C - IntronicSNV - 4/8
9-140328756-C-G NOXA1 c.1375C>G p.Arg459Gly Missense 14/14 -
19-33697955-G-A LRP3 c.1787G>A p.Arg596His Missense 7/7 -
9-140328756-C-T NOXA1 c.1375C>T p.Arg459Trp Missense 14/14 -
14-78082825-C-A SPTLC2 c.98G>T p.Ser33Ile Missense 1/12 -
11-121498420-A-C SORL1 c.6521A>C p.Asn2174Thr Missense 47/48 -
11-68174189-G-A LRP5 c.1999G>A p.Val667Met Missense 9/23 -
11-68174189-G-C LRP5 c.1999G>C p.Val667Leu Missense 9/23 -
11-46890165-C-T LRP4 c.4937G>A p.Arg1646Gln Missense 33/38 -
2-21255166-G-T APOB c.1352+60C>A - IntronicSNV - 10/28
17-4711165-G-T PLD2 c.98G>T p.Gly33Val Missense 2/25 -
10-68040325-C-T CTNNA3 c.1787G>A p.Ser596Asn Missense 13/18 -
10-68040325-C-G CTNNA3 c.1787G>C p.Ser596Thr Missense 13/18 -
2-170070172-C-T LRP2 c.6035G>A p.Arg2012Lys Missense 36/79 -
2-21255355-A-G APOB c.1223T>C p.Ile408Thr Missense 10/29 -
1-25889632-T-G LDLRAP1 c.604T>G p.Ser202Ala Missense 6/9 -
1-25889632-T-A LDLRAP1 c.604T>A p.Ser202Thr Missense 6/9 -
1-53793511-T-A LRP8 c.74A>T p.Gln25Leu Missense 1/19 -
1-53793511-T-C LRP8 c.74A>G p.Gln25Arg Missense 1/19 -
1-53793511-T-G LRP8 c.74A>C p.Gln25Pro Missense 1/19 -
17-17425631-C-T PEMT c.172G>A p.Val58Ile Missense 3/7 -
12-57598897-C-A LRP1 c.11200C>A p.Pro3734Thr Missense 73/89 -
17-17425631-C-G PEMT c.172G>C p.Val58Leu Missense 3/7 -
1-53792651-A-C LRP8 c.138T>G p.Asp46Glu Missense 2/19 -
2-21225281-C-T APOB c.13013G>A p.Ser4338Asn Missense 29/29 -
18-21120444-T-A NPC1 c.2572A>T p.Ile858Phe Missense 17/25 -
18-21120444-T-C NPC1 c.2572A>G p.Ile858Val Missense 17/25 -
1-55505552-A-ATG PCSK9 c.42_43insTG p.Leu15Cysfs*30 Frameshift 1/12 -
11-68207376-T-C LRP5 c.4480T>C p.Tyr1494His Missense 21/23 -
4-3526642-T-C LRPAP1 c.341A>G p.Asn114Ser Missense 2/8 -
4-3526642-T-A LRPAP1 c.341A>T p.Asn114Ile Missense 2/8 -
9-107620835-G-A ABCA1 c.688C>T p.Arg230Cys Missense 7/50 -
18-21124945-C-G NPC1 c.1926G>C p.Met642Ile Missense 12/25 -
11-123600475-A-T ZNF202 c.461T>A p.Val154Glu Missense 5/9 -
11-123600475-A-G ZNF202 c.461T>C p.Val154Ala Missense 5/9 -
11-123600475-A-C ZNF202 c.461T>G p.Val154Gly Missense 5/9 -
11-46898771-T-C LRP4 c.3256A>G p.Ile1086Val Missense 23/38 -
19-11216132-T-G LDLR c.550T>G p.Cys184Gly Missense 4/18 -
2-170010985-T-C LRP2 c.12280A>G p.Lys4094Glu Missense 66/79 -
18-21124945-C-T NPC1 c.1926G>A p.Met642Ile Missense 12/25 -
11-46897446-G-A LRP4 c.3608C>T p.Ala1203Val Missense 26/38 -
9-140328777-C-T NOXA1 c.1396C>T p.Arg466Cys Missense 14/14 -
12-57572366-A-C LRP1 c.4586A>C p.His1529Pro Missense 27/89 -
14-77987958-C-G SPTLC2 c.1304-34G>C - IntronicSNV - 9/11
1-53746346-T-G LRP8 c.409A>C p.Thr137Pro Missense 4/19 -