Magnesium-dependent hypocalcaemia (HSH), a rare inherited disease, is caused by selective disorders of magnesium absorption. Both X-linked and autosomal recessive modes of inheritance have been reported for HSH; this suggests a genetically heterogeneous condition. A balanced de novo t(X;9)(p22;q12) translocation has been reported in a female manifesting hypomagnesemia with secondary hypocalcemia. In a lymphoblastoid cell line, derived from this patient, the normal X chromosome is preferentially inactivated, suggesting that the patient's phenotype is caused by disruption of an HSH gene in Xp22. In an attempt to define more precisely the position of the X breakpoint, we have constructed a hybrid cell line retaining the der(X)(Xqter-Xp22.2::9q12-9qter) in the absence of the der(9) and the normal X chromosome. Southern blot analysis of this hybrid and in situ hybridization on metaphase chromosomes have localized the breakpoint between DXS16 and the cluster (DXS207, DXS43), in Xp22.2. Thus, if a gene involved in HSH resides at or near the translocation breakpoint, our findings should greatly facilitate its isolation.
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Alitalo T, Kruse TA, Ahrens P, Albertsen HM, Eriksson AW, Chapelle A de la (1991) Genetic mapping of 12 marker loci in the Xp22.3–22. 2 region. Hum Genet 86:599–603
Becker K, Lombeck I, Bremer HJ (1979) Primaere hypomagnesiaemie. Klinischer Verlauf, diagnostische und therapeutische Untersuchungen bei drei Kinder. Monatsschr Kinderheilkd 129:37–42
Davies KE, Mandel JL, Monaco AP, Nussbaum RL, Willard HF (1991) Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet 58:853–966
Ernberg I (1988) Growth transformation of B lymphocytes by Epstein-Barr virus. Cancer Rev 10:92–107
Fuscoe JC, Fennick RG, Ledbetter DH, Caskey CT (1983) Deletion and amplification of the HGPRT locus in Chinese hamster cells. J Mol Cell Biol 3 1086–1096
Garty R, Alkalay A, Bernheim JL (1983) Parathyroid hormone secretion and responsiveness to parathyroid hormone in primary hypomagnesemia. Isr M Med Sci 19:345–348
Hanauer A, Chery M, Fujita R, Driesel AJ, Gilgenkrantz S, Mandel JL (1990) The Friedreich ataxia gene is assigned to chromosome 9q13–q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15. Am J Hum Genet 46:133–137
Hennekam RCM, Donckerwolcke RA (1983) Primary hypomagnesemia, an autosomal recessive inherited disease? Lancet I:927
Hodgson VD, Heckmatt JZ, Hugues E, Crolla JA, Dubowitz V, Bobrow M (1986) A balanced de novo X/atuosome translocation in a girl with manifestations of Lowe syndrome. Am J Med Genet 23:837–847
Kapur S, Higgins JV, Delp K, Rogers B (1987) Menkes syndrome in a girl with autosome translocation. Am J Med Genet 26:503–510
McKusick V (1992) Mendelian inheritance in man. The John Hopkins University Press, Baltimore London
Mattei MG, Mattei JF, Ayme S, Giraud F (1982) X-autosome translocations: cytogenetic characteristics and their consequences. Hum Genet 61:295–309
Mettey R, Hoppeler A (1982) Les déficits magnésien de l'enfants. Arch Fr Pediatr 39:837–844
Meyer M, Mattei JF, Viallard JL, Goumy P, Dastugue B, Malpuech G (1978) Hypocalcémie magnésodépendante par trouble spécifique de l'absorption du magnésium associée à une anomalie chromosomique. Rev Fr Endocrinol Clin 19:101–108
Mossman J, Blunt S, Stephans R, Jones EE, Pembrey M (1983) Hunter's disease in a girl: association with a X;5 chromosomal translocation disrupting the Hunter gene. Arch Dis Child 58:911–915
Oberle I, Camerino G, Kloepfer C, Mandel JL 81986) Characterisation of a set of X linked sequences and of a panel of somatic cell hybrids useful for the regional mapping of the human X chromosome. Hum Genet 2:43–49
Pontecorvo G (1975) Production of mammalian somatic cell hybrids by means of PEG treatment. Somat Cell Genet 1:503–517
Schlessinger D, Mandel JL, Monaco AP, Nelson DL, Willard HF (1993) Report on the 4th International Workshop on Human X Chromosome Mapping. Cytogenet Cell Genet 64:147–194
Skyberg D, Stromme JH, Nesbakken R, Harnaes K (1967) Congenital primary hypomagnesemia, an inborn error of metabolism. Acta Paediatr Scand 56:26–27
Vainsel M, Vandevelde G, Smulders J, Vosters M, Hubain P, Loeb H (1970) Tetany due to hypomagnesaemia with secondary hypocalcemia. Arch Dis Child 45:254–258
Zonana J, Roberts SH, Thomas NST, Harper P (1988) Recognition and analysis of a cell line from a manifesting female with X-linked hypohidrotic ectodermal dysplasia and X;autosome balanced translocation. J Med Genet 25:383–386
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Chery, M., Biancalana, V., Philippe, C. et al. Hypomagensemia with secondary hypocalcemia in a female with balanced X;9 translocation: mapping of the Xp22 chromosome breakpoint. Hum Genet 93, 587–591 (1994). https://doi.org/10.1007/BF00202829
- Internal Medicine
- Blot Analysis
- Metabolic Disease
- Southern Blot