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.
Adenosine deaminase deficiency
ADA c.646G>A — Amish
Medium-chain acyl-CoA dehydrogenase deficiency
ACADM c.985A>G — Mennonite
ACADM IVS4-30A>G — Mennonite
Sitosterolemia
ABCG8 c.1720G>A — Amish
Weil-Marchesani syndrome
ADAMTS10 17,346 bp deletion — Amish
Vitamin B12 deficiency
AMN 43 bp deletion — Mennonite
Torkelson syndrome
APOA4 c.552_749dup — Mennonite
Familial hypercholesterolemia
Familial hypercholesterolemia
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
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
Limb-girdle muscular dystrophy, type 2A
CAPN3 c.2306G>A — Amish
Properdin deficiency
CFP c.379T>G — Mennonite
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
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
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
CYP21A2 c.518T>A — Amish
Primary ciliary dyskinesia
DNAH5 c.4348C>T — Amish
Dilated cardiomyopathy with arrhythmia
DSP c.699G>A — Amish
Hirschsprung disease
EDNRB c.828G>T — Mennonite
Cockayne syndrome
ERCC6 IVS14+1G>T — Amish
Ellis-van Creveld syndrome
EVC IVS13+5G>T — Amish
Factor 11 deficiency
F11 c.1327C>T — Mennonite
Factor 5 deficiency
F5 c.1601G>A — Amish and Mennonite
Apert syndrome
FGFR2 c.758C>G — Amish
Thanatophoric dysplasia
FGFR3 c.742C>T — Amish and Mennonite
Posterior column ataxia and retinitis pigmentosa
FLVCR1 c.361A>G — Mennonite
Fragile X syndrome
FMR1 (CGG)n expansion — Mennonite
Galactosemia
GALT c.563A>G — Amish
GALT c.940A>G — Amish
Glutaric aciduria, type 1
GCDH c.1262C>T — Amish
Non-syndromic deafness
GJB2 c.35delG — Amish and Mennonite
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
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
Severe combined immune deficiency
IL7R c.2T>G — Mennonite
ITCH deficiency
ITCH c.394_395insA — Amish
Cerebral cavernous malformations
KRIT1 c.47G>C — Mennonite
Pierson syndrome
LAMB2 c.440A>G — Mennonite
Dilated cardiomyopathy with AV block
LMNA c.568C>T — Amish
Osteoporosis-pseudoglioma syndrome
LRP5 c.1225A>G — Mennonite
LRP5 c.1275G>A — Mennonite
3-methylcrotonylglycinuria
MCCC2 c.295G>C — Amish
MCCC2 c.518insT — Mennonite
MCCC2 c.687A>C — Mennonite
McKusick-Kauffman syndrome
MKKS [c.250C>T + c.724G>T] — Amish
Methylmalonic aciduria and homocystinuria, cblC type
MMACHC c.271insA — 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
Gray platelet syndrome
NBEAL2 c.881C>G
Congenital nephrotic syndrome
NPHS1 c.1481delC — Mennonite
NPHS1 c.3250delG — Mennonite
Nephrotic syndrome
NPHS2 c.413G>A — Amish
Congenital insensitivity to pain with anhidrosis
NTRK1 IVS12+1G>A — Mennonite
Ornithine transcarbamylase deficiency
OTC c.422G>A — Amish
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
Propionic acidemia
PCCB c.1606A>G — Amish and Mennonite
Prolidase deficiency
PEPD c.793C>T — Amish
Pyruvate kinase deficiency
PKLR c.1436G>A — Amish
Glycogen storage disease, type 6
PYGL IVS13+1G>A — Mennonite
Severe combined immune deficiency
RAG1 c.2974A>G — Amish
Cartilage-hair hypoplasia
RMRP c.70A>G — Amish
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
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
Cystinuria
SLC3A1 c.1354C>T — Mennonite
SLC3A1 IVS6+2T>C — Mennonite
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
Spinal muscular atrophy
SMN1 exon 7 deletion — Mennonite
Symptomatic epilepsy and skull dysplasia
SNIP1 c.1097A>G
Troyer syndrome
SPG20 c.1110delA — Amish
GM3 synthase deficiency
ST3GAL5 c.694C>T — Amish
STRADA deficiency
STRADA 7 kb deletion — Mennonite
Aplastic anemia and pulmonary fibrosis
TERT c.1710G>C — Mennonite
Tyrosine hydroxylase deficiency
TH c.698G>A — Mennonite
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
Crigler-Najjar syndrome
UGT1A1 c.222C>A — Amish and Mennonite
Restrictive dermopathy
ZMPSTE24 c.54_55insT — Mennonite
Hereditary spherocytosis/elliptocytosis
SPTA1 c.6154delG – 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.