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| Limb disorders v1.10 | CYP26B1 |
Eleanor Williams commented on gene: CYP26B1: Associated with Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies (614416) in OMIM. PMID: 22019272 - Laue et al 2011 - 2 cases, 1 with a relevant limb phenotype. Family 1 - three siblings born to first-cousin parents who exhibited combinations of severe craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralization defects. First proband presented as a fetal death, and subsequent second and third sibs were identified as affected by ultrasonography in two separate pregnancies. Homozygosity for p.Arg363Leu in CYP26B1 was found in all 3 sibs. The parents were heterozygous. Family 2 - individual with a likely diagnosis of Antley-Bixler syndrome born to consanguineous parents. Homozygosity for p.Ser146Pro was found. The phenotype of this female included coronal and lambdoid craniosynostosis, a large sagittal skull defect, limited elbow extension, and arachnodactyly. PMID: 27410456 - Morton et al 2016 - 1 case. A woman homozygous for c.1303G>A; p.(Gly435Ser) in CYP26B1, which was associated with multisutural synostosis, radiohumeral synostosis, normal bone mineral density, and apparent intellectual disability. Reported limb phenotypes are camptodactyly of the fingers, long and narrow feet, short third and fourth metatarsals, and small third to fifth toenails. |
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| Limb disorders v0.270 | SEM1 | Louise Daugherty edited their review of gene: SEM1: Added comment: Agree with Red rating,Originally submitted as DSS1 by external reviewer (not SHFM1), the new HGNC-approved symbol is SEM1. Although Split-hand/foot malformation-1 (disease acronym and previous gene symbol SHFM1) is a relevant phenotype to the Limb panel, Split-hand/foot malformation-1 represents a contiguous gene syndrome caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1 (new gene symbol SEM1), DLX5, and DLX6 genes and possible regulatory elements in the region. Evidence exists that SHFM1 can also be caused by heterozygous mutation in the DLX5 gene. This is not a monogeneic disorder.; Changed phenotypes: Split hand/foot malformation 1, 183600; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders | NOG | Ellen McDonagh Added gene to panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||