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J Med Genet 38:470-472 doi:10.1136/jmg.38.7.470
  • Letters to the editor

Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22

  1. Helene Dollfusa,
  2. Govindasamy Kumaramanickavelb,
  3. Partha Biswasc,
  4. Corinne Stoetzela,
  5. Renaud Quilleta,
  6. Michael Dentond,
  7. Marion Mawd,
  8. Fabienne Perrin-Schmitta
  1. aLGME du CNRS, INSERM U184, Faculté de Médecine, 11 rue Humann, 67085 Strasbourg, France, bSankara Nethralaya, Medical Research Foundation, 18 College Road, Chennai, India, cAnandalok, Asutosh Mukherjee Road, Calcutta, India, dBiochemistry Department, University of Otago, PO Box 56, Dunedin, New Zealand
  1. Dr Dollfus, helene.dollfus{at}medecine.u-strasbg.fr

    Editor—Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant disorder of eyelid development defined by small palpebral fissures, epicanthus inversus, and ptosis.1 2 BPES type I (OMIM 110100) is characterised by female infertility, whereas BPES type II (OMIM 601649) is transmitted by both females and males. Most cases of BPES types I and II map to chromosome 3q22-q23 (BPES1).3-7However, a second locus (BPES2) was reported in the chromosome 7p13-p21 region on the basis of patients presenting with eyelid anomalies carrying chromosomal abnormalities in the 7p21 region8-11 and the further linkage data of a large Indian family diagnosed initially with BPES type II.7 TheTWIST gene, mapped on chromosome 7p21, codes for a transcription factor with a bHLH domain.12 TWIST mutations13-18 have been reported in the heterozygous state in patients presenting with the Saethre-Chotzen syndrome (SCS, OMIM 101400). This disorder is a common autosomal dominant form of syndromic craniosynostosis defined by craniostenosis, minor limb and ear abnormalities, and frequent ptosis of the eyelids.19 In the present study, molecular genetic analysis at TWIST and subsequent clinical re-evaluation of the Indian family …