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Page 1
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parrón-Pajares M, de la Torre C, Vasques GA, Funari MFA, Travessa AM, Dias P, Suarez-Ortega L, González-Buitrago J, Portillo-Najera NE, Llano-Rivas I, Martín-Frías M, Ramírez-Fernández J, Sánchez Del Pozo J, Garzón-Lorenzo L, Martos-Moreno GA, Alfaro-Iznaola C, Mulero-Collantes I, Ruiz-Ocaña P, Casano-Sancho P, Portela A, Ruiz-Pérez L, Del Pozo A, Vallespín E, Solís M, Lerario AM, González-Casado I, Ros-Pérez P, Pérez de Nanclares G, Jorge AAL, Heath KE. Sentchordi-Montané L, et al. J Clin Endocrinol Metab. 2020 Aug 1;105(8):dgaa218. doi: 10.1210/clinem/dgaa218. J Clin Endocrinol Metab. 2020. PMID: 32311039
CONTEXT: Heterozygous variants in the Indian hedgehog gene (IHH) have been reported to cause brachydactyly type A1 and mild hand and feet skeletal anomalies with short stature. ...RESULTS: Fifteen different heterozygous IHH variants were detected, one of whic …
CONTEXT: Heterozygous variants in the Indian hedgehog gene (IHH) have been reported to cause brachydactyly type A1 and …
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.
Racacho L, Byrnes AM, MacDonald H, Dranse HJ, Nikkel SM, Allanson J, Rosser E, Underhill TM, Bulman DE. Racacho L, et al. Eur J Hum Genet. 2015 Dec;23(12):1640-5. doi: 10.1038/ejhg.2015.38. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758993 Free PMC article.
Brachydactyly type A1 is an autosomal dominant disorder primarily characterized by hypoplasia/aplasia of the middle phalanges of digits 2-5. ...The sequencing of BMPR1B in this individual revealed a novel c.447-1G>A at a canonical acceptor splice site of e …
Brachydactyly type A1 is an autosomal dominant disorder primarily characterized by hypoplasia/aplasia of the middle pha …
Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene.
Stattin EL, Lindén B, Lönnerholm T, Schuster J, Dahl N. Stattin EL, et al. Eur J Med Genet. 2009 Sep-Oct;52(5):297-302. doi: 10.1016/j.ejmg.2009.05.008. Epub 2009 May 21. Eur J Med Genet. 2009. PMID: 19464397
Brachydactyly type A1 (BDA1; MIM 112500) is characterized by shortness or absence of the middle phalanx of the hands and feet. ...Affected individuals show hypoplasia of the ulnar styloid processes, ulna minus, osteoarthritis, normal length of all distal phal …
Brachydactyly type A1 (BDA1; MIM 112500) is characterized by shortness or absence of the middle phalanx of the hands an …
Mutations in GDF5 presenting as semidominant brachydactyly A1.
Byrnes AM, Racacho L, Nikkel SM, Xiao F, MacDonald H, Underhill TM, Bulman DE. Byrnes AM, et al. Hum Mutat. 2010 Oct;31(10):1155-62. doi: 10.1002/humu.21338. Hum Mutat. 2010. PMID: 20683927
Sequencing of the GDF5 coding region revealed that a mildly affected individual in the family was heterozygous, and that all of the severely affected individuals were homozygous for a novel missense c.1195C>T mutation that predicts a p.Arg399Cys substitution at a highly …
Sequencing of the GDF5 coding region revealed that a mildly affected individual in the family was heterozygous, and that all of the severely …
A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.
Liu M, Wang X, Cai Z, Tang Z, Cao K, Liang B, Ren X, Liu JY, Wang QK. Liu M, et al. J Hum Genet. 2006;51(8):727-731. doi: 10.1007/s10038-006-0012-6. Epub 2006 Jul 27. J Hum Genet. 2006. PMID: 16871364
Brachydactyly type A1 (BDA1) is caused by mutations in the Indian hedgehog gene, IHH, on chromosome 2q35-36. ...Linkage analysis showed that the BDA1 gene in the family was linked to marker D2S126 close to IHH with a LOD score of 4.74 at a recombinatio …
Brachydactyly type A1 (BDA1) is caused by mutations in the Indian hedgehog gene, IHH, on chromosome 2q35-36. ...Linkage …
A large duplication involving the IHH locus mimics acrocallosal syndrome.
Yuksel-Apak M, Bögershausen N, Pawlik B, Li Y, Apak S, Uyguner O, Milz E, Nürnberg G, Karaman B, Gülgören A, Grzeschik KH, Nürnberg P, Kayserili H, Wollnik B. Yuksel-Apak M, et al. Eur J Hum Genet. 2012 Jun;20(6):639-44. doi: 10.1038/ejhg.2011.250. Epub 2012 Jan 11. Eur J Hum Genet. 2012. PMID: 22234151 Free PMC article.
A specific spatial and temporal expression of Ihh within the developing limb buds is essential for accurate digit outgrowth and correct digit number. Although missense mutations in IHH cause brachydactyly type A1, small tandem duplications involving the IHH l …
A specific spatial and temporal expression of Ihh within the developing limb buds is essential for accurate digit outgrowth and correct digi …
IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.
Vasques GA, Funari MFA, Ferreira FM, Aza-Carmona M, Sentchordi-Montané L, Barraza-García J, Lerario AM, Yamamoto GL, Naslavsky MS, Duarte YAO, Bertola DR, Heath KE, Jorge AAL. Vasques GA, et al. J Clin Endocrinol Metab. 2018 Feb 1;103(2):604-614. doi: 10.1210/jc.2017-02026. J Clin Endocrinol Metab. 2018. PMID: 29155992
Molecular analyses revealed a smaller potential energy of mutated IHH molecules. The allele frequency of rare, predicted to be deleterious IHH variants found in short-stature samples (1.6%) was higher than that observed in two control cohorts (0.017% and 0.08%; P &l …
Molecular analyses revealed a smaller potential energy of mutated IHH molecules. The allele frequency of rare, predicted to be delete …