Article Text

Download PDFPDF
Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome
  1. C Lagier-Tourenne1,
  2. D Chaigne2,
  3. J Gong3,
  4. J Flori4,
  5. M Mohr5,
  6. D Ruh6,
  7. D Christmann7,
  8. J Flament3,
  9. J-L Mandel1,
  10. M Koenig1,
  11. H Dollfus8
  1. 1Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/Université Louis-Pasteur, Illkirch, CU de Strasbourg, France
  2. 2Neuropédiatrie, Clinique Sainte Odile, Strasbourg, France
  3. 3Service d’Ophtalmologie, Hôpitaux Universitaires de Strasbourg, France
  4. 4Centre Médico-Chirurgical et Obstétrical, Schiltigheim, France
  5. 5Institut d’Anatomie Pathologique, Faculté de Médecine de Strasbourg, France
  6. 6Cabinet de Neurologie, Strasbourg, France
  7. 7Service de Radiologie, Hôpitaux Universitaires de Strasbourg, France
  8. 8Fédération de Génétique, Hôpitaux Universitaires de Strasbourg, France
  1. Correspondence to:
 Dr H Dollfus, Fédération de Génétique, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Avenue Moliére, 67098 Strasbourg, France;

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

The Marinesco-Sjögren syndrome (MSS) (MIM 248800) is an autosomal recessive condition characterised by cataracts, ataxia, and growth and mental retardation. Chronic myopathy is a common feature. Peripheral neuropathy and acute rhabdomyolysis have been described occasionally in MSS. To date, no gene for it has been localised.

Congenital cataracts-facial dysmorphism-neuropathy syndrome (CCFDN) (MIM 604168) is a recently delineated autosomal recessive condition,1 so far only described in a specific gypsy group originating from Bulgaria. This disorder was localised by linkage analysis to 18qter, telomeric to the marker D18S1141.2 CCFDN alleles showed a highly conserved haplotype in the region D18S1141-D18S70-D18S1268 consistent with genetic homogeneity and a single founder mutation. Since then, the disease locus has been reduced to the interval located between markers D18S1095 and D18S1390.3,4

MSS and CCFDN share common clinical features and are considered to be differential diagnoses.

Recently, Merlini et al4 proposed that the CCFDN syndrome and one subtype of MSS (Marinesco-Sjögren/myoglobinuria), also only described in gypsy patients, are genetically identical. We report here the clinical and linkage analysis of one gypsy family and one Turkish family in which patients presented with congenital or juvenile cataracts and ataxia. Both families were initially diagnosed as MSS. However, our study shows that they are clinically and genetically distinct. We found that the gypsy family had CCFDN features and was linked to 18qter whereas the Turkish family had typical MSS features and was not linked to 18qter. Here, we confirm the clinical overlap between the CCFDN and MS syndromes and show that they are distinct genetic entities.


Family 1

A sister (patient 1) and a brother (patient 2) of Turkish origin were referred to the neuropaediatric clinic because of failure to thrive, psychomotor delay, major ataxia, and hypotonia. They were the fourth and fifth children of healthy, consanguineous parents (fig …

View Full Text