Xp22. 3 deletions in isolated familial Kallmann's syndrome

Journal Article · Thu Apr 01 00:00:00 EST 1993 · Journal of Clinical Endocrinology and Metabolism; (United States)

DOI:https://doi.org/10.1210/jcem.76.4.8473391· OSTI ID:6333241

Hardelin, J P; Levilliers, J; Legouis, R; Petit, C ^[1]; Young, J; Pholsena, M; Schaison, G ^[2]; Kirk, J; Bouloux, P ^[3]

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1. Institut Pasteur, Paris (France)
2. Centre Hospitalier de Bicetre, Le Kremlin-Bicetre (France)
3. Royal Free Hospital, London (United Kingdom)

Several familial cases of Kallmann's syndrome (KS) have been reported, among which the X-chromosome-linked mode of inheritance is the most frequent. The gene responsible for the X-linked KS has been localized to the terminal part of the X-chromosome short arm (Xp22.3 region), immediately proximal to the steroid sulfatase gene responsible for X-linked ichthyosis. Large deletions of this region have been previously shown in patients affected with both X-linked ichthyosis and KS. The authors report here the search for Xp22.3 deletions in 20 unrelated males affected with isolated X-linked KS. Only 2 deletions were found using Southern blot analysis, indicating that large deletions are uncommon in patients affected with KS alone. Both deletions were shown to include the entire KAL gene responsible for X-linked KS. The patients carrying these deletions exhibit additional clinical anomalies, which are discussed: unilateral renal aplasia, unilateral absence of vas deferens, mirror movements, and sensory neural hearing loss. 47 refs., 2 figs., 1 tab.

• OSTI ID: 6333241
• Journal Information: Journal of Clinical Endocrinology and Metabolism; (United States), Vol. 76:4; ISSN 0021-972X
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
GONADOTROPINS
SECRETION
GONADS
CONGENITAL MALFORMATIONS
HUMAN X CHROMOSOME
GENETIC MAPPING
DNA HYBRIDIZATION
MENTAL DISORDERS
SKIN DISEASES
CHROMOSOMES
DISEASES
HETEROCHROMOSOMES
HORMONES
HUMAN CHROMOSOMES
HYBRIDIZATION
MALFORMATIONS
MAPPING
ORGANIC COMPOUNDS
PATHOLOGICAL CHANGES
PEPTIDE HORMONES
PITUITARY HORMONES
PROTEINS
X CHROMOSOME
550400* - Genetics