Alternative titles; symbols
ORPHA: 1234;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 10q24.31 | ?Popliteal pterygium syndrome, Bartsocas-Papas type 2 | 619339 | Autosomal recessive | 3 | CHUK | 600664 |
A number sign (#) is used with this entry because of evidence that Bartsocas-Papas syndrome-2 (BPS2) is caused by homozygous mutation in the CHUK gene (600664) on chromosome 10q24. One such patient has been reported.
Bartsocas-Papas syndrome-2 (BPS2) is a severe form of popliteal pterygium disorder characterized by cutaneous webbing across one or more joints, cleft lip and/or palate, syndactyly, and genital malformations (summary by Leslie et al., 2015).
Leslie et al. (2015) reported a female infant with Bartsocas-Papas syndrome who was born at term by cesarean section to first-cousin Saudi parents. The cranial suture and anterior fontanel were wide, and the occiput was prominent with low-set ears with overfolded helices. Eye abnormalities included bilateral microphthalmia, ankyloblepharon, and cloudy corneas. The infant had bilateral cleft lip and palate, and the nose was distorted with absent alae nasi. Micrognathia and intraoral bands limited mouth opening. The upper extremities were short with bilateral cubital webs, and the hands were small with complete syndactyly bilaterally. The lower extremities were very short with popliteal webs extending from the upper thigh to the feet. There were multiple webs in the axillae, cubital, inguinal, and popliteal areas. Hand radiographs revealed the presence of only 3 metacarpals, hypoplasia of the proximal phalanges, and bilateral aplasia of the distal phalanges. Radiographs of the feet demonstrated absence of the left foot bones except the talus, and absence of the calcaneus, tarsal bones, and hypoplasia of the phalanges of the right foot.
The transmission pattern of BPS2 in the family reported by Leslie et al. (2015) was consistent with autosomal recessive inheritance.
By exome sequencing in a Saudi infant, born to first-cousin parents, with Bartsocas-Papas syndrome, Leslie et al. (2015) identified a homozygous splice site mutation in the CHUK gene (600664.0002). Sanger sequencing confirmed that the parents were heterozygous for the mutation.
Leslie, E. J., O'Sullivan, J., Cunningham, M. L., Singh, A., Goudy, S. L., Ababneh, F., Alsubaie, L., Ch'ng, G.-S., van der Laar, I. M. B. H., Hoogeboom, A. J. M., Dunnwald, M., Kapoor, S., Jiramongkolchai, J., Standley, J., Manak, J. R., Murray, J. C., Dixon, M. J. Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders. Am. J. Med. Genet. 167A: 545-552, 2015. [PubMed: 25691407] [Full Text: https://doi.org/10.1002/ajmg.a.36896]