PMID- 10528855
OWN - NLM
STAT- MEDLINE
DCOM- 19991119
LR  - 20190503
IS  - 0022-2593 (Print)
IS  - 0022-2593 (Linking)
VI  - 36
IP  - 10
DP  - 1999 Oct
TI  - X linked severe mental retardation, craniofacial dysmorphology, epilepsy,
      ophthalmoplegia, and cerebellar atrophy in a large South African kindred is
      localised to Xq24-q27.
PG  - 759-66
AB  - To date over 150 X linked mental retardation (XLMR) conditions have been
      documented. We describe a five generation South African family with XLMR,
      comprising 16 affected males and 10 carrier females. The clinical features common
      to the 16 males included profound mental retardation (100%), mutism despite
      apparently normal hearing (100%), grand mal epilepsy (87.5%), and limited life
      expectancy (68.8%). Of the four affected males examined, all had mild
      craniofacial dysmorphology and three were noted to have bilateral ophthalmoplegia
      and truncal ataxia. Three of 10 obligate female carriers had mild mental
      retardation. Cerebellar and brain stem atrophy was shown by cranial imaging and
      postmortem examination. Linkage analysis shows the gene to be located between
      markers DXS424 (Xq24) and DXS548 (Xq27.3), with a maximum two point lod score of 
      3.10.
FAU - Christianson, A L
AU  - Christianson AL
AD  - Department of Human Genetics and Developmental Biology, Faculty of Medicine,
      University of Pretoria, South Africa.
FAU - Stevenson, R E
AU  - Stevenson RE
FAU - van der Meyden, C H
AU  - van der Meyden CH
FAU - Pelser, J
AU  - Pelser J
FAU - Theron, F W
AU  - Theron FW
FAU - van Rensburg, P L
AU  - van Rensburg PL
FAU - Chandler, M
AU  - Chandler M
FAU - Schwartz, C E
AU  - Schwartz CE
LA  - eng
GR  - HD 26202/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - England
TA  - J Med Genet
JT  - Journal of medical genetics
JID - 2985087R
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Adult
MH  - Behavioral Symptoms
MH  - Cerebellum/abnormalities
MH  - Craniofacial Abnormalities/genetics
MH  - Epilepsy/genetics
MH  - Facies
MH  - Female
MH  - *Genetic Linkage
MH  - Genetic Markers
MH  - Heterozygote
MH  - Humans
MH  - Intellectual Disability/genetics
MH  - Male
MH  - Microsatellite Repeats
MH  - Models, Genetic
MH  - Ophthalmoplegia/genetics
MH  - Pedigree
MH  - South Africa
MH  - *X Chromosome
PMC - PMC1734236
EDAT- 1999/10/21 00:00
MHDA- 1999/10/21 00:01
CRDT- 1999/10/21 00:00
PHST- 1999/10/21 00:00 [pubmed]
PHST- 1999/10/21 00:01 [medline]
PHST- 1999/10/21 00:00 [entrez]
AID - 10.1136/jmg.36.10.759 [doi]
PST - ppublish
SO  - J Med Genet. 1999 Oct;36(10):759-66. doi: 10.1136/jmg.36.10.759.