FLNB haploinsufficiency-related short stature: a new syndrome or an expanded spectrum of Larsen syndrome

Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, et al. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004;36:405–10.

Article  CAS  PubMed  Google Scholar 

Udhaya Kumar S, Sankar S, Younes S, Thirumal Kumar K, Ahmad MN, Okashah SS, et al. Deciphering the role of filamin B calponin-homology domain in causing the Larsen syndrome, boomerang dysplasia, and atelosteogenesis type I spectrum disorders via a computational approach. Molecules. 2020;25:5543.

Article  Google Scholar 

Farrington-Rock C, Kirilova V, Dillard-Telm L, Borowsky AD, Chalk S, Rock MJ, et al. Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome. Hum Mol Genet. 2008;17:631–41.

Article  CAS  PubMed  Google Scholar 

Yang CF, Wang CH, Siong H’ng W, Chang CP, Lin WD, Chen YT, et al. Filamin B loss-of-function mutation in dimerization domain causes autosomal-recessive spondylocarpotarsal synostosis syndrome with rib anomalies. Hum Mutat. 2017;38:540–7.

Article  CAS  PubMed  Google Scholar 

Kong Y, Xu K, Yuan K, Zhu J, Gu W, Liang L, et al. Digenetic inheritance of SLC12A3 and CLCNKB genes in a Chinese girl with Gitelman syndrome. BMC Pediatr. 2019;19:114.

Article  PubMed  PubMed Central  Google Scholar 

Gerver WJM, Gkourogianni A, Dauber A, Nilsson O, Wit JM. Arm span and its relation to height in a 2- to 17-year-old reference population and heterozygous carriers of ACAN variants. Horm Res Paediatr. 2020;93:164–72.

Article  CAS  PubMed  Google Scholar 

Chen T, Wu H, Zhang C, Feng J, Chen L, Xie R, et al. Clinical, genetics, and bioinformatic characterization of mutations affecting an essential region of PLS3 in patients with BMND18. Int J Endocrinol. 2018;2018:8953217.

Article  PubMed  PubMed Central  Google Scholar 

Bicknell LS, Farrington-Rock C, Shafeghati Y, Rump P, Alanay Y, Alembik Y, et al. A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet. 2007;44:89–98.

Article  CAS  PubMed  Google Scholar 

Laville JM, Lakermance P, Limouzy F. Larsen’s syndrome: review of the literature and analysis of thirty-eight cases. J Pediatr Orthop. 1994;14:63–73.

Article  CAS  PubMed  Google Scholar 

Girisha KM, Bidchol AM, Graul-Neumann L, Gupta A, Hehr U, Lessel D, et al. Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients. BMC Med Genet. 2016;17:27.

Article  PubMed  PubMed Central  Google Scholar 

留言 (0)

沒有登入
gif