Bowen-Conradi Syndrome
| Disorder | |
|---|---|
| OMIM #: | #211180 (Click to access OMIM database) |
| Disorder: | Bowen-Conradi Syndrome |
| Also known as: | BWCNS, BOWEN HUTTERITE SYNDROME |
| Clinical | |
| Phenotype: | growth deficiency, microcephaly, developmental delay, seizures, dysphagia, contractures, micrognathia, prominent nose, clinodactyly, camptodactyly, club feet, undescended testes |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| ReferencesBowen P, Conradi GJ. (1976) Syndrome of skeletal and genitourinary anomalies with unusual facies and failure to thrive in Hutterite sibs. Birth Defects Orig Artic Ser 12(6):101-8. PubMed ID: 974244 Lamont RE, Loredo-Osti J, Roslin NM, Mauthe J, Coghlan G, Nylen E, Frappier D, Innes AM, Lemire EG, Lowry RB, Greenberg CR, Triggs-Raine BL, Morgan K, Wrogemann K, Fujiwara TM, and Zelinski T. (2005) A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3. Am J Med Genet A 132(2): 136-143. PubMed ID: 15578624 Torbert N, Reuter S, Myers A, De Berg K, Crotwell PL, Flanagan JD. (2015) Bowen-Conradi Syndrome: a trisomy 18-like autosomal recessive disorder common in Hutterites. S D Med Feb;68(2):65-7, 69. PubMed ID: 25799636 1 Hutterite |
|
| Gene: | EMG1 |
| Base Change: | A>G, at nucleotide 257 |
| Amino Acid Change: | asp 86 --> gly |
| Last updated: | 2022-11-02 |
| References |
|---|
| Armistead J, Khatkar S, Meyer B, Mark BL, Patel N, Coghlan G, Lamont RE, Liu S, Wiechert J, Cattini PA, Koetter P, Wrogemann K, Greenberg CR, Entian KD, Zelinski T, Triggs-Raine B. (2009) Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. Am J Hum Genet Jun;84(6):728-39. PubMed ID: 19463982 |
| Bowen P, Conradi GJ. (1976) Syndrome of skeletal and genitourinary anomalies with unusual facies and failure to thrive in Hutterite sibs. Birth Defects Orig Artic Ser 12(6):101-8. PubMed ID: 974244 |
| Hunter AG, Woerner SJ, Montalvo-Hicks LD, Fowlow SB, Haslam RH, Metcalf PJ, Lowry RB. (1979) The Bowen-Conradi syndrome -- a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities. Am J Med Genet 3(3):269-79. PubMed ID: 484596 |
| Lamont RE, Loredo-Osti J, Roslin NM, Mauthe J, Coghlan G, Nylen E, Frappier D, Innes AM, Lemire EG, Lowry RB, Greenberg CR, Triggs-Raine BL, Morgan K, Wrogemann K, Fujiwara TM, and Zelinski T. (2005) A locus for Bowen-Conradi syndrome maps to chromosome region 12p13.3. Am J Med Genet A 132(2): 136-143. PubMed ID: 15578624 |
| Lowry RB, Innes AM, Bernier FP, McLeod DR, Greenberg CR, Chudley AE, Chodirker B, Marles SL, Crumley MJ, Loredo-Osti JC, Morgan K, Fujiwara TM. (2003) Bowen-Conradi syndrome: a clinical and genetic study. Am J Med Genet A Jul 30;120A(3):423-8. PubMed ID: 12838567 |
| Torbert N, Reuter S, Myers A, De Berg K, Crotwell PL, Flanagan JD. (2015) Bowen-Conradi Syndrome: a trisomy 18-like autosomal recessive disorder common in Hutterites. S D Med Feb;68(2):65-7, 69. PubMed ID: 25799636 |
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