Complete @entity12107 due to Homozygous XXXX Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide.

@entity1 @entity4396 @entity58132 @entity246 @entity71473 @entity18272 @entity6126 @entity71472 @entity12107
INTRODUCTION: Mutations of the @entity1 @entity4396 gene are an extremely rare cause of normosmic idiopathic @entity6126 (nIHH), with only 6 mutations so far described. @entity1 : As part of a larger study, families with @entity12107 were screened for mutations in genes known to be associated with @entity12107 . In family 1, a 15-year and 9-month-old @entity1 first presented during infancy with @entity18272 and @entity246 . His pubic and axillary hair is at stage 4 and 2, respectively. His testes are 1 ml bilaterally, and his stretched penile length is 3.6 cm. In family 2, a 19-year and 2-month-old @entity1 was referred because of absence of secondary sexual characteristics. His 13-year and 8-month-old sister did not have any breast development. RESULTS: In 3 @entity1 from 2 independent families we identified @entity4396 mutations. In the proband from family 1, a homozygous 1-base deletion ( @entity71472 ) leading to a frameshift mutation (p.G29GfsX12) was identified. In family 2, the affected siblings had a novel homozygous mutation of @entity71473 leading to @entity58132 . CONCLUSION: Both mutations in these families are located in the region encoding the decapeptide and in the loci where the mutations have been described before. Therefore, these areas can be considered as mutational hot spots, indicating priority for routine diagnostic gene mutation analysis.
