Beaulieu-Boycott-Innes syndrome
| Disorder | |
|---|---|
| OMIM #: | #613680 (Click to access OMIM database) |
| Disorder: | Beaulieu-Boycott-Innes syndrome |
| Also known as: | BBIS MICROCEPHALY, AND DISTINCTIVE FACIES, WITH CARDIAC AND GENITOURINARY MALFORMATIONS |
| Clinical | |
| Phenotype: | developmental delay, hydrocephalus, cerebellar hypoplasia, microcephaly, facial dysmorphism, cleft palate, high forehead, long nose, choanal atresia, ventricular septal defect, chronic lung disease, premature ovarian failure, endometriosis, vertebral anomalies, renal agenesis, urogenital anomalies |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Hutterite | |
| Gene: | THOC6 |
| Base Change: | G>A, at nucleotide 136 |
| Amino Acid Change: | gly 46 --> arg |
| Last updated: | 2022-11-02 |
| References |
|---|
| Beaulieu CL, Huang L, Innes AM, Akimenko MA, Puffenberger EG, Schwartz C, Jerry P, Ober C, Hegele RA, McLeod DR, Schwartzentruber J; FORGE Canada Consortium, Majewski J, Bulman DE, Parboosingh JS, Boycott KM. (2013) Intellectual disability associated with a homozygous missense mutation in THOC6. Orphanet J Rare Dis Apr 26;8:62. PubMed ID: 23621916 |
| Boycott KM, Beaulieu C, Puffenberger EG, McLeod DR, Parboosingh JS, Innes AM. (2010) A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population. Am J Med Genet A Jun;152A(6):1349-56. PubMed ID: 20503307 |
Back