title: Male neonatal death and progressive weakness and immune deficiency in females: an unknown X linked condition.
abstract: We report a family with an undiagnosed X linked condition. The grandmother, two of her three daughters, and one of her grand-daughters have a slowly progressive proximal weakness, brisk reflexes, poor bladder function, static reduced night vision, and IgG2 deficiency. The diagnosis of the three living symptomatic females was "hereditary spastic paraplegia plus". They have lost five male children who died in the neonatal period of severe hypotonia and were of low birth weight. Investigations have not led to a unifying diagnosis: myotonic dystrophy, NARP, and X linked hyper IgM were specifically eliminated. Using the hypothesis that the condition is X linked dominant, haplotype analysis of the family suggests that the disease locus is within Xq26-qter. This entity should be considered in the differential diagnosis of families presenting with severe neonatal hypotonia in males and females with symptoms suggestive of complex hereditary spastic paraplegia.
authors.affiliation: Department of Clinical Genetics, Churchill Hospital, Headington, Oxford, UK.
authors.forename: G
authors.initials: G
authors.lastname: Woods
authors.forename: G
authors.initials: G
authors.lastname: Black
authors.forename: G
authors.initials: G
authors.lastname: Norbury
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001259:Ataxia / Q000175:diagnosis / Q000235:genetics; D002423:Cause of Death; D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics; D003937:Diagnosis, Differential; D004303:Dosage Compensation, Genetic; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000235:genetics*; D007226:Infant Mortality; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000175:diagnosis / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics; D015419:Spastic Paraplegia, Hereditary / Q000150:complications / Q000235:genetics; D014960:X Chromosome / Q000235:genetics* / Q000502:physiology
chemical_list: D004272:DNA, Mitochondrial