[CITATION][C] XNP mutation in a large family with Juberg-Marsidi syndrome

L Villard, J Gecz, JF Mattéi, M Fontés… - Nature …, 1996 - nature.com
L Villard, J Gecz, JF Mattéi, M Fontés, P Saugier-Veber, A Munnich, S Lyonnet
Nature genetics, 1996•nature.com
Sir-X-linked a-thalassaemia/mental retardation syndrome (ATR-X; MIM 301040) is
characterized by a severe mental retardation with dysmorphic features, genital anomalies
and intracorpuscular accumulation of HbH (j34). ATR-X has been mapped to Xql2-q21. 31
(ref. 1). On the other hand, Juberg-Marsidi syndrome (JM, MIM 309590) is a rare X-linked
recessive condition characterized by severe mental retardation, growth failure,
sensorineural deafness, microgenitalism and early a death2. This gene also maps The XNP …
Sir-X-linked a-thalassaemia/mental retardation syndrome (ATR-X; MIM 301040) is characterized by a severe mental retardation with dysmorphic features, genital anomalies and intracorpuscular accumulation of HbH (j34). ATR-X has been mapped to Xql2-q21. 31 (ref. 1). On the other hand, Juberg-Marsidi syndrome (JM, MIM 309590) is a rare X-linked recessive condition characterized by severe mental retardation, growth failure, sensorineural deafness, microgenitalism and early a death2. This gene also maps
The XNP gene encodes a putative nuclear protein which belongs to the SNF2/SWI2 helicase family which includes proteins involved in recombination and DNA repair (RAD16, RAD54, ERCC6) and transcriptional regulation (MOTl, brahma9). Our mutation occurs in the helicase V domain of XNP which is known to be involved in transcriptional control in yeast10. The Argl272Gln mutation involves an amino acid that is highly conserved among species from
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