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Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis
Author(s) -
Jawaheer D,
Juo SHH,
Le Caignec C,
David A,
Petit C,
Gregersen P,
Dowbak S,
Damle A,
McElreavey K,
Ostrer H
Publication year - 2003
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2003.00082.x
Subject(s) - gonadal dysgenesis , penetrance , biology , genetics , expressivity , genetic linkage , dysgenesis , phenotype , gene , endocrinology
46,XY gonadal dysgenesis was transmitted as an autosomal‐dominant trait in a large family with multiple affected members. Expressivity of the trait was highly variable, ranging from pure to partial gonadal dysgenesis associated with normal female genitalia or sexual ambiguity, to mild hypospadias in otherwise normal males. The phenotypic features of this trait appeared to be confined to the genitourinary system. Multipoint parametric analysis using markers D5S664, D5S633, and D5D2102 yielded an LOD score of 4.47, assuming sex‐limited, autosomal‐dominant inheritance with a penetrance of 0.6. Because mutation in testis‐determining genes leads to gonadal dysgenesis in 46,XY individuals, we postulate that the gene mapped by this study normally plays a role in gonadal differentiation.