Diseases & Mutations
The human genome is massive, including 3 billion nucleotide base pairs, and approximately 20,000 genes. Most of these genes contain instructions for producing proteins that determine how our bodies function. Genetic diseases occur when there is a permanent alteration in the DNA sequence that makes up a gene. Simply put, mutations in genes can cause a variety of disorders. There are many different types of mutations that can cause disease. We treat and diagnose many types of genetic disease.
Hyperinsulinemic hypoglycemia of infancy
ABCC8 c.2995 C>T — Amish
Sitosterolemia
ABCG8 c.1720G>A — Amish
Medium-chain acyl-CoA dehydrogenase deficiency
ACADM c.985A>G — Mennonite
ACADM IVS4-30A>G — Mennonite
ACADM c.199T>C - Amish
Very long-chain acyl-CoA dehydrogenase deficiency
ACADVL c.848T>C — Indiana Amish
Adenosine deaminase deficiency
ADA c.646G>A — Amish
Weil-Marchesani syndrome
ADAMTS10 17,346 bp deletion — Amish
Microcornea with myopic chorioretinal atrophy and telecanthus
ADAMTS18 c.2397C>G — Amish
Aicardi-Goutieres syndrome 6
ADAR c.577C>G — Mennonite
ADAR c.296dupT — Mennonite
Reticular dysgenesis
AK2 c.622T>C — Western Pennsylvania Amish
Hereditary fructose intolerance
ALDOB c.448G>C — Mennonite
Vitamin B12 deficiency
AMN 43 bp deletion — Mennonite
Non-syndromic mental retardation
ANAPC7 8054 bp deletion — Amish
Torkelson syndrome
APOA4 c.552_749dup — Mennonite
Familial hypercholesterolemia
APOB c.10580G>A — Amish
Androgen insensitivity syndrome
AR c.2599G>A — Indiana Amish
Variant ataxia-telangiectasia (atypical)
ATM c.1229T>C — Mennonite
ATM c.5071A>C — Mennonite
Byler disease
ATP8B1 c.923G>T — Amish
Familial hypercholanemia
BAAT c.226A>G — Amish
Bardet-Biedl syndrome
BBS1 c.1169T>G — Amish
Maple syrup urine disease
BCKDHA c.1312T>A — Mennonite
Lethal neonatal rigidity and multifocal epilepsy
BRAT1 c.638_639insA — Amish
Susceptibility to familial breast and ovarian cancer
BRCA2 c.5073dupA — Amish
Biotinidase deficiency
BTD c.1330G>C — Amish
BTD c.1368A>C — Amish
BTD c.1459T>C — Mennonite
Glutaric aciduria, type 3
C7orf10 c.895C>T — Amish
Timothy syndrome
CACNA1C c.1216G>A — Amish
X-linked cone-rod dystrophy
CACNA1F c.3166dupC
Idiopathic generalized epilepsy
CACNA1G c.6188_6189delCT — Amish
Limb-girdle muscular dystrophy, type 2A
CAPN3 c.2306G>A — Amish
Primary microcephaly 6
CENPJ c.40C>T — Indiana Amish
CENPJ c.1078-2A>T — Amish
CENPJ c.3982A>T — Amish
Woolly hair, liver dysfunction, pruritus, dysmorphic features, and global developmental
CCDC47 c.1145delT — Indiana Amish
Properdin deficiency
CFP c.379T>G — Mennonite
Cystic fibrosis
CFTR c.1521_1523delCTT — General
Multiple pterygium syndrome, Escobar variant
CHRNG c.459_460insA — Amish
Spondyloepiphyseal dysplasia and humerospinal dysostosis
CHST3 c.1298C>T — Amish
Bartter syndrome
CLCNKB 22,508 bp deletion — Amish
Neuronal ceroid lipofuscinosis 6
CLN6 c.358_366delTTCATCATG — Indiana Amish
Achromotopsia
CNGA3 c.1126G>A — Mennonite
Cortical dysplasia and focal epilepsy
CNTNAP2 c.3709delG — Amish
Knobloch syndrome
COL18A1 c.4054_4055delCT — Amish
Osteogenesis imperfecta
COL1A2 c.2098G>T — Amish
Non-syndromic mental retardation
CRADD c.382G>C
Chronic granulomatous disease
CYBB c.1222G>A — Amish
CYBB c.1335C>A — Amish
11-beta-hydroxylase deficiency
CYP11B1 c.1343G>A — Amish
Aldosterone deficiency
CYP11B2 5 bp deletion — Amish
Spastic paraplegia 56
CYP2U1 c.1206_1207delAG — Mennonite
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
CYP21A2 c.518T>A — Amish
Infantile hypercalcemia
CYP24A1 c.428_430delAAG — Amish
Familial focal epilepsy with variable foci
DEPDC5 c.1453C>T — Mennonite
Duchenne muscular dystrophy
DMD c.5972delT — Amish
DMD c.5353C>T — Mennonite
Myotonic dystrophy-1
DMPK (CTG)n repeat expansion — Amish
Ciliary dyskinesia, primary, 18
DNAAF5 c.2374C>T — Mennonite
Primary ciliary dyskinesia
DNAH5 c.4348C>T — Amish
Dilated cardiomyopathy with arrhythmia
DSP c.699G>A — Amish
Hirschsprung disease
EDNRB c.828G>T — Mennonite
Inflammatory skin and bowel disease, neonatal, 2
EGFR c.560-2_565delAGGCCAAA — Mennonite
Intellectual disability
ELP2 c.1580G>A — Amish
Cockayne syndrome
ERCC6 IVS14+1G>T — Amish
Ellis-van Creveld syndrome
EVC IVS13+5G>T — Amish
Multiple exostoses, type 1
EXT1 c.1818G>A — Amish
Factor 11 deficiency
F11 c.1327C>T — Mennonite
Factor 5 deficiency
F5 c.1601G>A — Amish and Mennonite
Hemophilia B
F9 c.1025C>T — Amish
Marfan syndrome
FBN1 c.3704delC— Amish
Apert syndrome
FGFR2 c.758C>G — Amish
Pfeiffer syndrome
FGFR2 c.799T>C — Amish
Thanatophoric dysplasia
FGFR3 c.742C>T — Amish and Mennonite
Muenke syndrome
FGFR3 c.749C>G — Amish
Posterior column ataxia and retinitis pigmentosa
FLVCR1 c.361A>G — Mennonite
Fragile X syndrome
FMR1 (CGG)n expansion — Mennonite
Glycogen storage disease II
GAA c.2238G>C — Mennonite
Galactosemia
GALT c.563A>G — Amish
GALT c.940A>G — Amish
Glutaric aciduria, type 1
GCDH c.1262C>T — Amish
Charcot-Marie-Tooth disease
GDAP1 c.692C>T — Amish
Non-syndromic deafness
GJB2 c.35delG — Amish and Mennonite
GJB2 c.101T>C — General
Hypomyelinating leukodystrophy
GJC2 c.203A>G — Amish
GM1-gangliosidosis
GLB1 c.902C>T — Amish
Non-ketotic hyperglycinemia
GLDC c.128delA — Amish
GLDC c.2186delC — Amish
Mucolipidosis II alpha/beta
GNPTAB c.732_733delAA — Mennonite
Usher-like syndrome
HARS c.1361A>C — Amish
Non-syndromic intellectual disability, autism, and gait disturbance
HERC2 c.1781C>T
Hereditary hemochromatosis
HFE c.187C>G — Amish
HFE c.845G>A — Amish
Tyrosinemia, type 3
HPD c.1005C>G — Mennonite
HPD c.479A>G — Mennonite
HPD c.85G>A — Mennonite
3-β-OH-steroid dehydrogenase deficiency
HSD3B2 c.35G>A — Amish
Mental retardation, X-linked syndromic, Turner type
HUWE1 c.12389G>A — Amish
Orofacial clefting
HYAL2 c.443A>G — Indiana Amish
Endocrine-cerebro-osteodysplasia
ICK c.815G>A — Ontario Amish
Severe combined immune deficiency
IL7R c.2T>G — Mennonite
ITCH deficiency
ITCH c.394_395insA — Amish
Psychomotor delay and intractable seizures
JKAMP c.243_244dupG — Mennonite
Long QT syndrome 2
KCNH2 c.1897A>C — Amish
Bipolar spectrum disorder, susceptibility to
KCNH7 c.1181G>A — Amish and Mennonite
Macrocephaly, neurodevelopmental delay, and seizures
KPTN c.776C>A — Amish
Cerebral cavernous malformations
KRIT1 c.47G>C — Mennonite
Poretti-Boltshauser syndrome
LAMA1 c.8556+1G>A — Amish
Pierson syndrome
LAMB2 c.440A>G — Mennonite
Dilated cardiomyopathy with AV block
LMNA c.568C>T — Amish
CODAS syndrome
LONP1 c.2161C>G — Amish
Osteoporosis-pseudoglioma syndrome
LRP5 c.1225A>G — Mennonite
LRP5 c.1275G>A — Mennonite
Autosomal recessive deafness-63
LRTOMT c.95_108delGGACCATGTCCCCT — Mennonite
3-methylcrotonylglycinuria
MCCC2 c.295G>C — Amish
MCCC2 c.518insT — Mennonite
MCCC2 c.687A>C — Mennonite
Mental retardation, autosomal recessive 44
METTL23 c.350_352delCAC — Mennonite
McKusick-Kauffman syndrome
MKKS [c.250C>T + c.724G>T] — Amish
Methylmalonic aciduria and homocystinuria, cblC type
MMACHC c.271insA — Amish
Trichothiodystrophy, nonphotosensitive 1
MPLKIP c.430A>G — Amish
Homocystinuria
MTHFR c.1129C>T — Amish
Spastic ataxia
MTPAP c.1432A>G — Amish
Mevalonate kinase deficiency
MVK c.1174G>A — Mennonite
MVK c.803T>C — Mennonite
Cardiomyopathy (dilated, hypertrophic, severe neonatal) and left ventricular non-compaction
MYBPC3 c.3330+2T>G — Amish
Gray platelet syndrome
NBEAL2 c.881C>G
Leigh syndrome
NDUFA12 c.178C>T — Mennonite
Deafness
NIN c.4756C>T — Amish
Proximal symphalangism 1A
NOG c.122T>A — Amish
Congenital nephrotic syndrome
NPHS1 c.1481delC — Mennonite
NPHS1 c.3250delG — Mennonite
Nephrotic syndrome
NPHS2 c.413G>A — Amish
Familial focal epilepsy and focal cortical dysplasia
NPRL3 c.349delG — Mennonite
Congenital insensitivity to pain with anhidrosis
NTRK1 IVS12+1G>A — Mennonite
Albinism, oculocutaneous, type II
OCA2 c.823A>G — Mennonite
OCA2 c.2433G>T — Mennonite
Lowe syndrome
OCRL c.1621G>T — General
X-linked mental retardation-106
OGT c.1970C>T — Amish
Ornithine transcarbamylase deficiency
OTC c.422G>A — Amish
Osteogenesis imperfecta, type VIII
P3H1 c.1460C>T — Mennonite
Phenylketonuria
PAH c.283_285delATC — Amish
PAH c.782G>A — Amish
PAH c.782G>A — Mennonite
PAH IVS10-11G>A — Mennonite
PAH IVS12+1G>A — Mennonite
Parkinson disease, juvenile, type 2
PARK2 c.101_102delAG — Indiana Amish
Propionic acidemia
PCCB c.1606A>G — Amish and Mennonite
Prolidase deficiency
PEPD c.793C>T — Amish
Zellweger syndrome
PEX26 c.292C>T — Indiana Amish
Polycystic kidney disease
PKD1 c.12138+2T>C — Amish
Pyruvate kinase deficiency
PKLR c.1436G>A — Amish
Charcot-Marie-Tooth disease, type 4F
PRX c.2145T>A — Mennonite
Glycogen storage disease, type 6
PYGL IVS13+1G>A — Mennonite
Severe combined immune deficiency
RAG1 c.2974A>G — Amish
Omenn syndrome
RAG1 c.527G>T — Mennonite
Retinoblastoma
RB1 c.1981C>T — Mennonite
Cartilage-hair hypoplasia
RMRP c.70A>G — Amish
Microcephalic osteodysplastic primordial dwarfism, type 1
RNU4ATAC 51G>A — Amish
Cerebral vasculopathy and early onset stroke
SAMHD1 c.1411-2A>G — Ohio Amish
Epilepsy, generalized, with febrile seizures plus, type 1
SCN1B c.350G>A — Mennonite
SCN1B c.305_313delAGGATCTGT — Mennonite
Alpha-1 antitrypsin deficiency
SERPINA1 c.1096G>A — Amish and Mennonite
Limb-girdle muscular dystrophy
SGCB c.271C>T — Amish
SGCB c.452C>G — Amish
Charcot-Marie-Tooth disease type 4C
SH3TC2 c.2860C>T — Mennonite
Gittelman syndrome
SLC12A3 8,627 bp deletion — Amish
SLC12A3 c.1924C>G — Amish
Salla disease
SLC17A5 c.115C>T — Mennonite
Amish microcephaly
SLC25A19 c.530G>C — Amish
Hypertrophic cardiomyopathy
SLC25A4 c.523delC — Mennonite
Diastrophic dysplasia
SLC26A2 c.835C>T — Mennonite
Cystinuria
SLC3A1 c.1354C>T — Mennonite
SLC3A1 IVS6+2T>C — Mennonite
Glucose–galactose malabsorption
SLC5A1 c.1673G>A — Amish
Infantile parkinsonism-dystonia syndrome
SLC6A3 [c.1408T>A + c.1409A>G] — Amish
SLC6A3 IVS9+1G>A — Mennonite
Cystinuria
SLC7A9 c.1166C>T — Mennonite
SLC7A9 c.201C>T — Mennonite
Autosomal recessive deafness
SLITRK6 c.1240C>T — Amish
Kleefstra syndrome phenotypic spectrum
SMARCB1 c.110G>A — Mennonite
Non-syndromic mental retardation
SMG8 c.1832G>A — Amish
Spinal muscular atrophy
SMN1 exon 7 deletion — Mennonite
Symptomatic epilepsy and skull dysplasia
SNIP1 c.1097A>G
Prader-Willi syndrome
SNRPN hypermethylation — Amish and Mennonite
Troyer syndrome
SPG20 c.1110delA — Amish
Mast syndrome
SPG21 c.601_602insA — Amish
Hereditary spherocytosis/elliptocytosis
SPTA1 c.6154delG – Mennonite
GM3 synthase deficiency
ST3GAL5 c.694C>T — Amish
STRADA deficiency
STRADA 7 kb deletion — Mennonite
Glutaric aciduria, type 3
SUGCT c.895C>T — Amish
Spinocerebellar ataxia type 8
SYNE1 c.17905C>T — Amish
Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
TANGO2 22.6 kb deletion — Mennonite
Holt-Oram syndrome
TBX5 c.474dupC — Amish
Aplastic anemia and pulmonary fibrosis
TERT c.1710G>C — Mennonite
Tyrosine hydroxylase deficiency
TH c.698G>A — Mennonite
Primary torsion dystonia
THAP1 c.134_135insGGGTT; c.137_139delAAC — Amish
Familial hypercholanemia
TJP2 c.143T>C — Amish
TMCO1 defect syndrome
TMCO1 c.139_140delAG — Amish
Familial periodic fever
TNFRSF1A c.362G>A — Mennonite
Nemaline rod myopathy
TNNT1 c.505G>T — Amish
Torsion dystonia
TOR1A c.907_909delGAG — Mennonite
Sudden infant death with dysgenesis of the testes
TSPYL1 c.457_458insG — Amish
Microcephaly with chorioretinopathy
TUBGCP6 c.5458T>G — Mennonite
Oculocutaneous albinism type IB
TYR c.1217C>T — Amish
Angelman syndrome
UBE3A c.2327A>C — Somerset Amish
Crigler-Najjar syndrome
UGT1A1 c.222C>A — Amish and Mennonite
Cohen syndrome
VPS13B c.9260dupT — Ohio Amish
Nephrocerebellar syndrome
WDR73 c.888delT — Amish
Wolfram syndrome
WFS1 c.2015T>C —Indiana Amish
Failure to thrive, developmental delay, liver dysfunction, and abnormal subcortical white matter
YARS c.499C>A — Amish
Spastic paraplegia-15
ZFYVE26 c.4114_4115insGAAGGGC — Amish
Restrictive dermopathy
ZMPSTE24 c.54_55insT — Mennonite
Help us to continue to provide patients with timely, affordable and effective care!
Our clinic serves as a trusted medical home for families working to prevent and treat genetic illness in their children. Serving predominantly Amish and Mennonite families, the sturdy, timber-framed building was "raised" by the hands of those in the Anabaptist community outside of Strasburg, PA. Inside the clinic is filled with an array of high-tech gene sequencing that allows us to deliver state of the art care in a nurturing environment.