Microcephalic osteodysplastic primordial dwarfism, type 1
| Disorder | |
|---|---|
| OMIM #: | #210710 (Click to access OMIM database) |
| Disorder: | Microcephalic osteodysplastic primordial dwarfism, type 1 |
| Also known as: | MOPD I OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I BRACHYMELIC PRIMORDIAL DWARFISM TAYBI-LINDER SYNDROME (TALS) CEPHALOSKELETAL DYSPLASIA LOW-BIRTH-WEIGHT DWARFISM WITH SKELETAL DYSPLASIA |
| Clinical | |
| Phenotype: | short stature, intrauterine growth delay, skeletal dysplasia, microcephaly, brachycephaly, short limbs, brain malformation, delayed epiphyseal maturation, dry skin, hyperkeratosis, atrial septal defect, coarctation of aorta, renal hypoplasia, development delay, pachygyria, agenesis of corpus callosum, sudden death |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Testing is available at LHSC. |
| Mutations | |
| 1 Amish | |
| Gene: | RNU4ATAC |
| Base Change: | n.51G>A |
| Amino Acid Change: | |
| Last updated: | 2022-11-07 |
| References |
|---|
| Benoit-Pilven C, Besson A, Putoux A, Benetollo C, Saccaro C, Guguin J, Sala G, Cologne A, Delous M, Lesca G, Padgett RA, Leutenegger AL, Lacroix V, Edery P, Mazoyer S. (2020) Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene. PLoS One Jul 6;15(7):e0235655. PubMed ID: 32628740 |
| He H, Liyanarachchi S, Akagi K, Nagy R, Li J, Dietrich RC, Li W, Sebastian N, Wen B, Xin B, Singh J, Yan P, Alder H, Haan E, Wieczorek D, Albrecht B, Puffenberger E, Wang H, Westman JA, Padgett RA, Symer DE. (2011) Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I. Science 332(6026):238-40. PubMed ID: 21474760 |
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