Hypophosphatasia
| Disorder | |
|---|---|
| OMIM #: | #241500 (Click to access OMIM database) |
| Disorder: | Hypophosphatasia |
| Also known as: | HOPS |
| Clinical | |
| Phenotype: | ossification abnormalities, fractures, vertebral defects, other sekeletal defects, hypercalcemia, failure to thrive, short stature, short limbs, short ribs, blue sclera, respiratory infections, severe rachitic-like illness, decreased tissue and serum alkaline phosphatase, polyhydramnios |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. Infantile forms are homozygous for the Gly334Asp (legacy Gly317Asp) mutation. Juvenile forms are heterozygous for Gly334Asp (legacy Gly317Asp) and Glu191Lys (legacy Glu174Lys). |
| Mutations | |
| 1 Old Colony Mennonite, Hutterite | |
| Gene: | ALPL |
| Base Change: | G>A, at nucleotide 1001 |
| Amino Acid Change: | gly 334 --> asp |
| 2 Old Colony Mennonite | |
| Gene: | ALPL |
| Base Change: | G>A, at nucleotide 571 |
| Amino Acid Change: | glu 191 --> lys |
| 3 Old Colony Mennonite | |
| Gene: | ALPL |
| Base Change: | c.997+2T>A |
| Amino Acid Change: | splicing defect |
| Last updated: | 2022-11-05 |
| References |
|---|
| Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB, Innes AM. (2008) Clinical genetics and the Hutterite population: a review of Mendelian disorders. Am J Med Genet A 146A(8):1088-98. PubMed ID: 18348266 |
| Greenberg C, Evans J, McKendry-Smith S, Redekopp S, Haworth J, Mulivor R, Chodirker B. (1990) Infantile Hypophosphatasia: Localization within Chromosome Region 1p36.1-34 and Prenatal Diagnosis Using Linked DNA Markers. Am J Hum Genet 46: 286-292. PubMed ID: 1689104 |
| Greenberg CR, Taylor C, Haworth J, Seargeant L, Philipps S, Triggs-Raine B, Chodirker BN. (1993) A Homoallelic Gly317>Asp Mutation in ALPL Causes the Perinatal (Lethal) Form of Hypophosphatasia in Canadian Mennonites. Genomics 17: 215-217. PubMed ID: 8406453 |
| Hofmann C, Girschick H, Mornet E, Schneider D, Jakob F, Mentrup B. (2014) Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia. Eur J Hum Genet Oct;22(10):1160-4. PubMed ID: 24569605 |
| Leung EC, Mhanni AA, Reed M, Whyte MP, Landy H, Greenberg CR. (2013) Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis. JIMD Rep 11:73-8. PubMed ID: 23580367 |
| Lowry RB, Snyder FF, Wesenberg RL, Machin GA, Applegarth DA, Morgan K, Carter RJ, Toone JR, Holmes TM, Dewar RD. (1985) Morquio syndrome (MPS IVA) and hypophosphatasia in a Hutterite kindred. Am J Med Genet 22(3):463-75. PubMed ID: 3933344 |
| Orton NC, Innes AM, Chudley AE, Bech-Hansen NT. (2008) Unique disease heritage of the Dutch-German Mennonite population. Am J Med Genet A 146A(8):1072-87. PubMed ID: 18348259 |
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