Novel mutation of IL1RAPL1 gene in a nonspecific X-linked mental retardation (MRX) family
β Scribed by Magdalena Nawara; Jakub Klapecki; Katarzyna Borg; Marta Jurek; Sarah Moreno; Jolanta Tryfon; Jerzy Bal; Jamel Chelly; Tadeusz Mazurczak
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 233 KB
- Volume
- 146A
- Category
- Article
- ISSN
- 1552-4825
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We describe a large family with nonspecific X-linked mental retardation (MRX 47). An X-linked recessive transmission is suggested by the inheritance from the mothers in two generations of a moderate to severe form of mental retardation in six males, without any specific clinical findings. Two point
Nonspecific X-linked mental retardation is a heterogeneous condition consisting of nonsyndromal mental retardation in males. It is caused by mutation in one of several genes on the X chromosome (MRX genes). Here we report on the localization of a presumptive MRX gene to chromosomal region Xq24-q26 i