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X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26
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- Lagerström-Fermér, Maria (author)
- Uppsala universitet,Medicinsk genetik
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- Sundvall, Mats (author)
- Uppsala universitet,Medicinsk genetik
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- Johnsen, Elsy (author)
- Uppsala universitet,Medicinsk genetik
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- Warne, GL (author)
- Forrest, SM (author)
- Zajac, JD (author)
- Richards, A (author)
- Ravine, D (author)
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- (creator_code:org_t)
- 1997
- 1997
- English.
- In: American Journal of Human Genetics. - 0002-9297 .- 1537-6605. ; 60:4, s. 910-916
- Journal article (peer-reviewed)
Abstract
Subject headings
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- We present a linkage analysis and a clinical update on a previously reported family with X-linked recessive panhypopituitarism, now in its fourth generation. Affected members exhibit variable degrees of hypopituitarism and mental retardation. The markers DXS737 and DXS1187 in the q25-q26 region of the X chromosome showed evidence for linkage with a peak LOD score (Zmax) of 4.12 at zero recombination fraction (theta(max) = 0). An apparent extra copy of the marker DXS102, observed in the region of the disease gene in affected males and heterozygous carrier females, suggests that a segment including this marker is duplicated. The gene causing this disorder appears to code for a dosage-sensitive protein central to development of the pituitary.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine (hsv//eng)
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- ref (subject category)
- art (subject category)
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- Sundvall, Mats
- Johnsen, Elsy
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- Zajac, JD
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- Richards, A
- Ravine, D
- Landegren, Ulf
- Pettersson, Ulf
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- MEDICAL AND HEALTH SCIENCES
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