title: Novel X-linked mental retardation syndrome with short stature maps to Xq24.
abstract: We describe a large family from Sardinia, Italy, in which a novel X- linked mental retardation (XLMR) syndrome segregates. The phenotype observed in the 8 affected males includes severe mental retardation (MR), lack of speech, coarse face, distinctive skeletal features with short stature, brachydactyly of fingers and toes, small downslanting palpebral fissures, large bulbous nose, hypoplastic ear lobe and macrostomia. Carrier females are not mentally retarded, although some of them have mild dysmorphic features such as minor ear lobe abnormalities, as well as language and learning problems. Linkage analysis for X-chromosome markers resulted in a maximum lod score of 3.61 with marker DXS1001 in Xq24. Recombination observed with flanking markers identified a region of 16 cM for further study. None of the other XLMR syndromes known to map in the same region shows the same composite phenotype. This evidence strongly suggests that the genetic disease in this family is unique.
authors.affiliation: Department of Microbiology and Molecular Genetics, UMDNJ New Jersey Medical School, Newark, New Jersey 07103-2714, USA. VITALEEM@UMDNJ.edu
authors.forename: E
authors.initials: E
authors.lastname: Vitale
authors.forename: C
authors.initials: C
authors.lastname: Specchia
authors.forename: M
authors.initials: M
authors.lastname: Devoto
authors.forename: A
authors.initials: A
authors.lastname: Angius
authors.forename: S
authors.initials: S
authors.lastname: Rong
authors.forename: M
authors.initials: M
authors.lastname: Rocchi
authors.forename: M
authors.initials: M
authors.lastname: Schwalb
authors.forename: L
authors.initials: L
authors.lastname: Demelas
authors.forename: D
authors.initials: D
authors.lastname: Paglietti
authors.forename: S
authors.initials: S
authors.lastname: Manca
authors.forename: C
authors.initials: C
authors.lastname: Mastropaolo
authors.forename: G
authors.initials: G
authors.lastname: Serra
mesh_terms: D000293:Adolescent; D000328:Adult; D002874:Chromosome Mapping; D005192:Family Health; D005260:Female; D005385:Fingers / Q000002:abnormalities; D008040:Genetic Linkage; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D007621:Karyotyping; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D013576:Syndactyly / Q000473:pathology; D013577:Syndrome; D014034:Toes / Q000002:abnormalities; D014960:X Chromosome / Q000235:genetics*