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The Molecular basis of Autosomal Recessive Diseases among the Arabs and Druze in Israel (goldenhelix.org/server/Israeli)
1. The Molecular basis of Autosomal Recessive Diseases among the Muslim Arabs (in italics diseases found among Muslim Bedouins only)
Single Mutation
Abetalipoproteinemia / MTP / gene deletionAcrodermatitis enteropathica / SLC39A4 / p.A483X
Afibrinogenemia congenital / FGB / p.W467X
Aicardi Goutieres syndrome / SAMHD1 / p.120_123 del
Allgrove syndrome (Triple A) / AAAS / p.Q15K
Alopecia neurological defect and endocrinopathy syndrome / RBM28 / c.T1052C
Alstrom syndrome / ALMS1 / C2726fs
Arthrogryposis autosomal recessive / SYNE 1 / A>G acceptor site 136/137
Arthrogryposis renal dysfunction and cholestasis (ARC) / VPS33B / c.403+1G>A
Aspartylglucosaminuria / AGA / p.S72P
Ataxia with oculomotor apraxia / APTX / p.W279X
Bartter syndrome, infantile variant with sensorineuronal deafness / BSND / p.G28A
Brachydactyly type A2 / BMPR1B / p.G377A
Brittle cornea syndrome / ZFF469 / c. 9527 delG
Calcinosis, tumoral with hyperphosphatasemia. / GALNT3 / c.1524G+1 >A
Cardiomyopathy dilated, neonatal isolated / SDHA / p. G555E
Carnitine Palmitoyl transferase deficiency / CPTII / p.R503C
Carnitine-acylcarnitine translocase deficiency / CACT / p.Q238R
Cataracts, autosomal recessive / GCNT2 / p.W328X
CEDNIK / SANP29 / c.220delG
Ceroid lipofuscinosis, 8 / CLN8 / Q256E
Cleft lip/palate ectodermal dysplasia, CLPED1 / CLPED1 / p.323_1bpdel
Color blindness total (achromatopsia) / CNGA3 / p.V529M
Complement C7 deficiency / C7 / p.G1135C
Complex III deficiency, mitochondrial respiratory chain / UQCRQ / c.208C → T
Congenital absence of alpha fetoprotein / AFP / p.T294fs25X
Congenital analbuminemia / HAS / c.228_229delAT
Congenital chloride diarrhea / SLV26A3 / p.G187X
Congenital disorder of glycosylation IIc / SLC35C1 / Thr308Arg
Congenital thyroid hormone and glucocorticoid deficiency / TSHR / p.C2024T
Cutis laxa autosomal recessive, type II / ATP6V0A2 / c.2375C>G
Cutis laxa autosomal recessive / PYCR1 / c.617_633+6del
Cystinuria / SLC3A1 / c.891+4A>G
Enhanced S-cone syndrome / NR2E3 / c.119-2A>C
Factor XI deficiency (PTA) / FXI / p.E117X
Factor XIII deficiency / F13A1 / p.L660P
Familal hypocalciuric hypercalcemia / CASR / Q459R
Familial erythrophagocytosis / FHL3 / c.1755insT
Fanconi anemia G / FANCG / 212T>C
Fanconi syndrome with hypophosphatemic rickets / SLC34A1 / 2061_2081dup
Fran-Ter Haar syndrome / SH3PXD2B / c.76-2A>C
Glucose-galactose malabsorption / SLC5A1 / p.C255W
Glycogen storage disease type 1a / G6PC / p.V66G
Growth Hormone Deficiency Type Ib / GHRH-R / p.R357C
H syndrome / SLC29A3 / c.1279G>A
Hemolytic uremic syndrome, Complement H factor 1 deficiency / CFH / 24bpdel (ex20)
Hereditary haemorrhagic telangiectasia / ENG / c.932T>G
Hereditary spastic paraplegia type 11 / SPG11 / Q40X
Hereditary spastic paraplegia type 15 / SPG15 / c.6702_6771
Hermansky-Pudlak syndrome / HPS6 / c.1066-1067insG
Hypocalciuric hypercalcemia / CASR / Q459R
Hypophosphatasia, infantile / ALPL / p.R433C
Hypotonia - cystinuria syndrome / SLC3A1, / Deletion
Hypotrichosis simplex / LIPH / c.280_369dup
Ichthyosis Congenita / ABCA12 / Ex6_del
Ichthyosis with hypotrichosis / ST14 / p.G827R
Inclusion Body Myopathy / GNE / p.M712T
Infantile bilateral striatal necrosis / NUP62 / p.Q391P
Isolated growth hormone deficiency / GH / p.R357C
Isovarelic academia / IVD / c.774C>G
Johnson Blizzard syndrome / UBR1 / 2598delA
Krabbe disease / GALC / p.D528N
Lafora disease / EPM2A / eEx2-56Kbdel
Lethal contractural syndrome type 2 / ERBB3 / IVS-8A>G
Lethal contractural syndrome type 3 / PIP5KIC / c.G757A
Leukocyte adhesion deficiency, type II / FUCT1 / p.T308R
Leukodystrophy with spastic paraparesis dystonia / FAH2 / c.786+1G>A
Limb girdle muscular dystrophy LGMD2B / DYSF / 23bp_ins
Limb girdle muscular dystrophy LGMD2C / SGCG / p.525del
Limb girdle muscular dystrophy LGMD2I / FKRP / p.R54W
Lipoid proteinosis / ECM / Ex8 splice
MACS Syndrome / RIN2 / c.1731 delC
Mal de Meleda (MDM) / SLURP-1 / p.G86R
Mental retardation with progressive microcephaly / TRAPPC9 / p.R475X
Mental retardation, non syndromic / CC2D1A / p.G408fsX437
Microphthalmia/anophthalmia / CHX10 / p.A227T
Mitochondrial disease due to a defective mitochondrial translation / MRPS16 / p.A111X
Mitochondrial encephalopathy / KIAA0971 / c.1246C>T
Mitochondrial Hsp60 Chaperonopathy disease / HSPD1 / D29G
Myoglobinuria, acute recurrent / LPIN1 / c.643G>T
Neonatal myoclonic epilepsy / SLC25A22 / p.P206L
Nephrotic syndrome steroid resistant / NPHS2 / p.R138X
Neuropathy and bilateral strial necrosis / SLC25A19 / c.373G>A
Nonbullous congenital ichthyosiform erythroderma / ALOX12B / p.Lys542ArgfsX
OSMED / COL11A2 / p.R845X
Osmodysplasia / GPC6 / deletion
Peroxisome Biogenesis disorders / PEX2 / p.W223X
PNPO deficiency / PNPO / c.284G>A
Polymalformative syndrome due to FTO mutation / FTO / c.947G>A
Pontocerebellar hypoplasia type II / TSEN54 / A370S
POR deficiency / POR / G539R
Primary ciliary dyskinesia / RSPH9 / c.801_803delGAA
Progressive familial intrahepatic cholestasis / ABCB11 / R470Q
Progressive Myoclonic epilepsy Unverrich-Lundborg / CSTB / Expansion
Progressive myoclonic epilepsy-ataxia / PRICKLE1 / R104Q
Pseudorheumatoid arthropathy of childhood / WISP3 / p.C52X
Pycnodysostosis / CTSK / p.K330W
Raine syndrome / FAM20C / c.1672C>T
Recurrent rhabdomyolysis / LPIN1 / c.643G>T
Renal glucosuria / SLC5A2 / p.K321R
Reticulosis, familial hystiocytic / FHL3 / c.1755insT
Rickets, 1,25 dehydroxyvitamin D3 resistant / VDR / p.Y292X
Sanfilippo B disease (MPSIIIB) / NA-GLU / p.R674H
SERKAL syndrome / WNT4 / c.C341T
Sialic acid storage disease / SLC17A5 / c.983G>A
Sickle cell anemia / HBB / G6V
Sjogren-Larsson syndrome / ALDH3A2 / c.682C>T
Spinal muscular atrophy type I (SMA1) / SMN1 / deletion
Smith Lemli Opitz / DHCR7 / p.N52S
Spastic paraplegia with thin corpus callosum / SPG11 / p.Q40X
Spondylocostal dysostosis / DLL3 / p.S198ins5
Spondylo-epi-metaphyseal dysplasia (SEMD) / MATN3 / c.973T>A
Spondylo-meta epiphyseal dysplasia (SMED) / DDR2 / c.2254 C>T
Steroid 5 alpha reductase deficiency / SRD5A2 / Y235F
Stuve-Wiedmann syndrome / LIFR / 2472-2476del TATGT
Thiamine responsive megaloblastic anemia / SLC19A2 / p.del242fs/259X
Trifunctional protein deficieny / HADHA / c.703C>T
Ventricular tachycardia, polymorphic catecholaminergic / CASQ 2 / p.D307H
Weissenbacher-Zweymuller syndrome / COL11A2 / p.R854X
Wilson disease / ATP7B / c.1639delC
Xanthinuria / MOCOS / p.A776C
2 mutations in one gene
Acute infantile liver failure / TRMU / c.500-510del, V279M
Ataxia telangiectasia / ATM / c.497del17514bp, c.7240delA
Biotinidase deficiency / BTD / p.A393C,del p.G34S
Ceroid lipofuscinosis, 2 / CLN2 / c.775delC, E72X
Diabetes insipidus, nephrogenic / AQP2 / p.G298T, p.G542X
Ectodermal dysplasia, skin fragility / PKP1 / c.203-1G>A, c.847-2A>G
Epidermolysis bullosa, pyloric atresia and aplasia cutis / ITGB4 / 2279bp deletion, c.delEx27<In30
Growth Hormone Deficiency Type Ia / GH1 / c.1211delCT, IVS4C>G
Hurler syndrome / IDU / Ex2C>A, Ex8 A>C
Hypoparathyroidism, mental retardation and dysmorphism / TBCE / c.155-156del, c.207-208delTA
Monilethrix / TRKHB6 / p.E410D, p.G413L
Nephronophthisis infantile / INVS / p.R907X, c.C2719T
Osteopetrosis / TCIRG1 / c.C5233T, c.G4640T
Pituitary hormone deficiency (combined) / POU1F1 / p.F262L, p.W193X
Polymicrogyria, bilateral frontal / GPR56 / IVS9+3G>C, p.C346S
Prolidase deficiency / PEPD / p.S202F, A212P
Renal tubular acidosis with progressive sensorineural deafness / ATP6V1B1 / splice junction before exon 4, 340C>T
Resitance to thyrotropin / TSHR / L653V, P68S
Rickets, hereditary hypophospatemic / ENPP1 / c.2248_2249insA, Y901S
Spinal muscular atrophy with respiratory distress / SMARD1 / 11delA, L236X
Tyrosinemia type II / TAT / c.1224G>T, R417X
Wolman disease / LIPA / p.S106X, G87V
More than 2 mutations in one gene.
c.2147delC
c.3434delC
p.D1012N
p.V1056M
Citrullinemia type II, neonatal onset / SLC25A13 / E192K
L598R
p.532fs
Congenital amegakaryotic thrombocytopenia / c-MLP / c.212+5G>A
C127T
C76T
Congenital insensivity to pain with anhidrosis / NTRK1 / c.1926insT
c.196T
p.C1250T
p.P689L
Combined pituitary hormone deficiencies / POU1F1 / F262L
K230E
W193X
Congenital lipoid adrenal hyperplasia / STAR / p.A632G
p.G671T
p.R193X
p.T593del
Dyserythropoietic anemia type I (congenital) / CDAN1 / IVS-12+5G>A
p.V867M
3238C>T
p.R1040W
Epidermolysis bullosa generalized atrophic benign / COL17A1 / c.2226insTGGA
c.3766+1G>A
c.4144del4
c.6339delG
c.682+1G>A
c.737insA
IVS51+1G>A
p.R1226X
p.W796X
Factor VII deficiency / F7 / IVSII+1G>C
p.T359M
G180R
Fanconi Anemia A / FANCA / deletion
IVS42A A>C
p.V2291I
Gaucher disease / GLC / D409H
p.R48W
N370S
Glaucoma, congenital / CYP1B1 / p.G61E
p.R469W
c.3987G>A
Glutaric academia type I / GCDH / c.1173delG
p.A293T
p.A392S
p.G390R
p.L283P
p.S305L
p.T416I
Glutaric academia type II / ETHFDH / c.1074 G>C
c.1425 C>A
c.299 T>A
Glycogen storage disease type 1b / G6PT / c.1211delCT
p.G149E
p.W393X
c.G252A
GM1 Gangliosidosis / GLB1 / c.485delT
p.H276P
p.K346N
p.R201H
Homocystinuria / CBS / c.Ex16,19bpdel/IVS17,5bpdel
p.I278T
p.K102Q/Ex5del
p.T262R
Hypomagnesemia, primary congenital / TRPM6 / c.1010+5G>C
c.3209-68A>G
c.2009+1G>A
Hypothyroidism, congenital / TPO / p.A540X
p.G493S
p.R540X
p.S292F
Medium chain acyl CoA dehydrogenase deficiency / ACADM / 362C>T
IVS3-1G>C
del621 agta
Metachromatic leukodystrophy, late infantile / ARSA / c.499+1G>A
p.C69G
p.G14D
p.G86D
p.Q190H
p.S96L
Methyl malonic aciduria / MUT / IVS+3A>G
p.A499T
p.E414X
p.N219Y
Molybdenum cofactor deficiency / MOCS1 / c.722Tdel
p.R47L
p.R91W
Mucolipidosis II/III / GNPTAB / c.2916insT
c.3434+1G>A
c.3502_4deltTC
IVS 18+1 G>A
IVS-2A>G
c.500insC
p.G106S
c.500insC
p.G106S
Nephrotic syndrome congenital, Finnish type / NPHS1 / c.2160insC
p.C1138T
p.C1707G
p.E192N
p.Glu178X
Neuroaxonal dystrophy, infantile / PLA2G6 / p.G347A
p.P223Q
p.V691del
Niemann Pick type C / NPC1 / c.2279_81delTCT
c.3347delTC
del1760F
p.A927V
p.G992W
p.N1156S
P691L
R1186H
p.R404Q
Niemann-Pick type A,B disease / SMPD1 / c.561delT
c.677delT
C582W
F565L
G240R
W144R
Oxalosis I (Primary hyperoxaluria type I) / AGTX / Ex2splice
p.G243A
p.G949C
Pendred syndrome / SLC26A4 / p.F667C
c.1421delT
c.1565delG
Pompe disease / GAA / L299P
p.R854X
P136L
C341insT
p.D404N
Rickets, hereditary hypophospatemic with hypercalciuria / SLC34A3 / c.1058G>T
c.1238C>A
c.846G>A
c.905delC
c.228delC
Sanfilippo A disease ( (MPSIIIA) / SGSH / p.L411F
p.T139M
p.Y89X
Tay Sachs disease / HEXA / c.78G>A
IVS12 + 2T>C
p.T26X
Thrombastenia of Glanzmann / ITGA2B / A97C
del 13bp
IVS4-3
Mutations in more than one gene
Bartter and Gitelman syndrome / CLCNKB / p.R438HKCNJ11 / G220S
T71M
Bardet Biedl syndrome / BBS2 / p.V75G
BBS3 / p.R122X
BBS4 / p.R295P
BBS7 / c.E596K
BBS11 / c.C388T
Chronic granulomatous disease / NCF2 / 196 C>T
C304T
CYBA / G70A
Congenital neutropenia / ELA2 / T156C
G6PC3 / c.785G>A
Cone-rod dystrophy / ADAM9 / c.411-8A>G
ABCA4 / c.4254-15del23
ABCA4 / c.5882G>A
ABCA4 / p.C1150del
Complex 1 deficiency, mitochondrial respiratory chain / NDUFAF3 / G77R
NDUFA11 / c.IVS15G>A
TMC1 / R34X
Epidermolysis bullosa lethalis / LAMA3 / c.860_861insT
c.2942delA
p.K594N
LAMB3 / c.129insA
p.Q1083X
p.R792X
p.Q1083X
LAMC2 / c.368_373delinsACCAC
p.R586X
Epidermolysis bullosa simplex / KRT5 / p.G476D
KRT14 / p.R125C
p.R134C
p.W305X
Leber congenital amaurosis / CRB1 / c.3306G>A
RDH12 / c.377C>T
GUCY2D / c.387del
CRB1 / c.4005+1G>A
c.4121-4130del
CNGA3 / G333C
Maple syrup urine disease / BCKDHA / Exon 6 del
p.R242X
DBT / p.V69G
p.H391R
Meckel/ Joubert syndrome / MKS1 / p.Q350X
MKS3 / c.1065+1delG
c.IVS10+1delG
NPHP6 / G1890X
TMEM216 / c.G230C
Mitochondrial depletion syndrome / SUCLA2 / 3272del43ins5
TK2 / p.I181N
Nonketotic Hyperglycinemia / GLDC / p.A802V
c.2607C>A
AMT / p.H42R
Persistent hyperinsulinemic hypoglycemia of infancy / ABCC8 / c.1113insT
p.R836X
KCNJ11 / p.P254L
+ 88 g >t
Retinitis pigmentosa / TULP1 / c.1495+2_1495+3insT
C2ORF71 / c.2756_2768del
c.556C>T
PRCD / p.R22X
Severe combined immune deficiency / RAG1 / L454Q
RAG2 / C1886T
Walker Warburg syndrome / POMT2 / p.K307fs
POMT1 / p.L421fs
2. The Molecular basis of Autosomal Recessive Diseases among the Druze
One mutation
c.346C>T / ASL / Argininosuccinic aciduriaD234H / VPS33B / Arthrogryposis renal dysfunction and cholestasis
c.1524G+1G>A / GALNT3 / Calcinosis, tumoral with hyperphosphatasemia.
c.31265C>T / CPS1 / Carbamoyl phosphate synthetase I deficiency
p.D454G / CPT1A / Carnitine Palmitoyl transferase deficiency
c.85delC / CYP27A1 / Cerebrotendinous xanthomatosis
c.1034-1035 insT / ERCC6 / Cockayne syndrome
T460C / c-MLP / Congenital amegakaryotic thrombocytopenia
c.808C>T / SLC3A1 / Cystinuria
p.C87R / EDAR / Ectodermal dysplasia
p.T386N / FXI / Factor XI deficiency (PTA)
p.R469W / CYP1B1 / Glaucoma, congenital
c.1844+1G>A / PYGM / Glycogenosis V, myophosphorylase deficiency,
c.981delG / CDH3 / Hypotrichosis with juvenile macular dystrophy
W521X / FLJ39501 / Ichthyosis congenital recessive
c.1748T>C / GALC / Krabbe disease
785-1 G>T / GHR / Laron syndrome, Pituitary dwarfism II
c.204delA / DGUOK / Mitochondrial depletion syndrome
c.3347delTC / NPC1 / Niemann Pick C
M195R / AGTX / Oxalosis
More than 1 mutation in one gene
c.6672delGG/delTACG / ATM / Ataxia telangiectasiac.1339C>T
IV52+1G>C / FVII / Factor VII deficiency
p.C310P
Ex2C>A / IDU / Hurler syndrome
Ex7C>T
exon 8 A>C
c.167insC / GNPTAB / Mucolipidosis III
p.G106S
p.R322X / MCOLN1 / Mucolipidosis IV
p.R403C
p.D404N / GAA / Pompe disease
p.L355P
L368R / PEPD / Prolidase deficiency
p.S202F
c.496Cdel / HEXA / Tay Sachs disease
p.S279P
c.3648del6bp / ATP7B / Wilson disease
W939C
Mutations in more than one gene
p.1467K / KRT5 / Epidermolysis bullosa simplexp.R125H
p.Y415C / KRT14
p.S133X / DBT / Maple syrup urine disease
Ser289Leu / BCKDHA
3. The Molecular basis of Autosomal Recessive Diseases among the Christian Arabs
One mutation
c.2284delCT / ATM / Ataxia telangiectasiaY199X / CLN2 / Ceroid lipofuscinosis, 3
p.T322X / CSA / Cockayne syndrome
c.1237T>C / NDUFS2 / Complex 1 deficiency, mitochondrial respiratory chain
p.P24del / FVII / Factor VII deficiency
p.C29W / BCKDHA / Maple syrup urine disease
IVS8 nt5 / HEXB / Sandhoff disease
p.R233X / SGSH / Sanfilippo A disease
More than one mutation
p.G253R / TYR / Albinism, oculocutaneousp.S50X
IVS2-1G
p.R299H
p.R402X
c.5460+1G>A / ABCA4 / Cone-rod dystrophy
p.G1203E
c.5882G>A
IVS28-15del123bp
c.4538insC
p.C1150del
c.1349insT / PROM1
p.T274M / ARSA / Metachromatic leukodystrophy, late infantile
p.R390W
c.499+1G>A