OBJECTIVE: To identify and clinically evaluate four consanguineous families of Israeli Arab origin with non-syndromic mental retardation (NSMR), comprising a total of 10 affected and 24 unaffected individuals. PARTICIPANTS AND METHODS: All the families originated from the same small village and had the same family name. Association of the condition in these families with the two known autosomal recessive NSMR loci on chromosomes 3p25-pter and 4q24 (neurotrypsin gene) was excluded. RESULTS: Linkage of the disease gene to chromosome 19p13.12-p13.2(Zmax = 7.06 at theta = 0.00) for the marker D19S840 was established. All the affected individuals were found to be homozygous for a common haplotype for the markers cen-RFX1-D19S840-D19S558-D19S221-tel. CONCLUSIONS: The results suggest that the disease is caused by a single mutation derived from a single ancestral founder in all the families. Recombination events and a common disease bearing haplotype defined a critical region of 2.4 Mb, between the loci D19S547 proximally and D19S1165 distally.
OBJECTIVE: To identify and clinically evaluate four consanguineous families of Israeli Arab origin with non-syndromic mental retardation (NSMR), comprising a total of 10 affected and 24 unaffected individuals. PARTICIPANTS AND METHODS: All the families originated from the same small village and had the same family name. Association of the condition in these families with the two known autosomal recessive NSMR loci on chromosomes 3p25-pter and 4q24 (neurotrypsin gene) was excluded. RESULTS: Linkage of the disease gene to chromosome 19p13.12-p13.2(Zmax = 7.06 at theta = 0.00) for the marker D19S840 was established. All the affected individuals were found to be homozygous for a common haplotype for the markers cen-RFX1-D19S840-D19S558-D19S221-tel. CONCLUSIONS: The results suggest that the disease is caused by a single mutation derived from a single ancestral founder in all the families. Recombination events and a common disease bearing haplotype defined a critical region of 2.4 Mb, between the loci D19S547 proximally and D19S1165 distally.
Authors: R Zemni; T Bienvenu; M C Vinet; A Sefiani; A Carrié; P Billuart; N McDonell; P Couvert; F Francis; P Chafey; F Fauchereau; G Friocourt; V des Portes; A Cardona; S Frints; A Meindl; O Brandau; N Ronce; C Moraine; H van Bokhoven; H H Ropers; R Sudbrak; A Kahn; J P Fryns; C Beldjord; J Chelly Journal: Nat Genet Date: 2000-02 Impact factor: 38.330
Authors: O Riess; L Schöls; H Bottger; D Nolte; A M Vieira-Saecker; C Schimming; F Kreuz; M Macek; A Krebsová; T Klockgether; C Zühlke; F A Laccone Journal: Hum Mol Genet Date: 1997-08 Impact factor: 6.150
Authors: P Couvert; T Bienvenu; C Aquaviva; K Poirier; C Moraine; C Gendrot; A Verloes; C Andrès; A C Le Fevre; I Souville; J Steffann; V des Portes; H H Ropers; H G Yntema; J P Fryns; S Briault; J Chelly; B Cherif Journal: Hum Mol Genet Date: 2001-04-15 Impact factor: 6.150
Authors: Petter Strømme; Marie E Mangelsdorf; Marie A Shaw; Karen M Lower; Suzanne M E Lewis; Helene Bruyere; Viggo Lütcherath; Agi K Gedeon; Robyn H Wallace; Ingrid E Scheffer; Gillian Turner; Michael Partington; Suzanna G M Frints; Jean-Pierre Fryns; Grant R Sutherland; John C Mulley; Jozef Gécz Journal: Nat Genet Date: 2002-03-11 Impact factor: 38.330
Authors: Ross A D Bathgate; Chrishan S Samuel; Tanya C D Burazin; Sharon Layfield; Antonia A Claasz; Irna Grace T Reytomas; Nicola F Dawson; Chongxin Zhao; Courtney Bond; Roger J Summers; Laura J Parry; John D Wade; Geoffrey W Tregear Journal: J Biol Chem Date: 2001-10-31 Impact factor: 5.157
Authors: K Kutsche; H Yntema; A Brandt; I Jantke; H G Nothwang; U Orth; M G Boavida; D David; J Chelly; J P Fryns; C Moraine; H H Ropers; B C Hamel; H van Bokhoven; A Gal Journal: Nat Genet Date: 2000-10 Impact factor: 38.330
Authors: Ilaria Meloni; Maddalena Muscettola; Martine Raynaud; Ilaria Longo; Mirella Bruttini; Marie-Pierre Moizard; Marie Gomot; Jamel Chelly; Vincent des Portes; Jean-Pierre Fryns; Hans-Hilger Ropers; Barbara Magi; Cristina Bellan; Nila Volpi; Helger G Yntema; Sarah E Lewis; Jean E Schaffer; Alessandra Renieri Journal: Nat Genet Date: 2002-03-11 Impact factor: 38.330
Authors: L Basel-Vanagaite; R Attia; M Yahav; R J Ferland; L Anteki; C A Walsh; T Olender; R Straussberg; N Magal; E Taub; V Drasinover; A Alkelai; D Bercovich; G Rechavi; A J Simon; M Shohat Journal: J Med Genet Date: 2005-07-20 Impact factor: 6.318
Authors: M J Soltani Banavandi; K Kahrizi; F Behjati; M Mohseni; H Darvish; I Bahman; S S Abedinni; S Ghasemi Firouzabadi; E Jafari; Sh Ghadami; F Sabbagh; Gh R Kavoosi; H Najmabadi Journal: Iran Red Crescent Med J Date: 2012-02-01 Impact factor: 0.611